Unmasking Sturge-Weber syndrome in adulthood: a case with extrafacial port-wine stain and delayed neurological symptoms.

Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report highlights the challenges of diagnosing SWS when presenting with atypical features. Here, the authors present a 55-year-old man with an extrafacial port-wine stain and delayed-onset seizures, deviating from the classic triad. Case presentation: A 55-year-old man presented with a recent seizure and a characteristic port-wine birthmark extending beyond the typical facial region. Neurological examination revealed no weakness, speech difficulties, or coordination problems. Ophthalmological examination didn't reveal glaucoma. Limited resources restricted access to advanced imaging like MRI scans. However, based on the constellation of clinical findings, including the facial birthmark with angiomatosis and the new-onset seizure, the patient received a diagnosis of SWS. Treatment with Levetiracetam was initiated to prevent future seizures, and patient education on managing diabetes and hypertension was provided. Clinical discussion: This case underscores the importance of considering SWS in diagnosing adult-onset seizures, especially with a characteristic facial birthmark. The delayed presentation and isolated seizure suggest potentially less severe brain involvement. Resource limitations necessitated a clinical diagnosis and treatment with readily available medications. Conclusion: This case highlights the challenges of diagnosing atypical SWS presentations. Early diagnosis is crucial for prompt management and improved patient outcomes. Future research should focus on developing robust diagnostic tools and exploring novel treatment options for atypical SWS presentations.

PHACE syndrome: a case report and a comprehensive review.

Introduction and importance: PHACE syndrome is a rare neurocutaneous disorder characterized by large segmental hemangiomas on the face and is associated with multiple developmental defects. PHACE stands for posterior fossa malformations, hemangiomas, arterial abnormalities, cardiac defects, and eye anomalies, with the most common manifestation being hemangioma in the cervico-facial region in early childhood. Case presentation: The authors report a case of a 15-year-female with complaints of facial hemangioma which on multisystemic imaging showed features of central nervous system (CNS) anomalies that led to the diagnosis of PHACE syndrome. The patient was started on propanolol which decreased the size of hemangioma in follow-up visits. Clinical discussion: The hemangioma in the frontotemporal and frontonasal area of the face are associated more with CNS and cardiovascular anomalies needing a detailed multisystem approach. CNS anomalies include posterior cerebral fossa enlargement, cystic dilation of the fourth ventricle, arachnoid cyst, and cerebellar hypoplasia which were present in our case. Propanolol is considered the first-line drug for facial hemangioma with reported evidence of remarkable improvement and good tolerance. However, regular follow-up of the patient is needed to rule out any recurrence. Conclusion: PHACE syndrome, although being a rare occurrence, must be kept as a differential diagnosis in infants and children with facial hemangioma. Imaging modalities like MRI/magnetic resonance arteriography must be used to rule out possible associations related to PHACE syndrome and focus on early treatment to prevent possible complications.

Sturge-Weber syndrome: an update for the pediatrician.

BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations. SWS usually presents as a facial port-wine birthmark, with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities. The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma. SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways. We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices, the latest pathophysiological insights, and the potential novel therapeutic avenues they provide. DATA SOURCES: A narrative, non-systematic review of the literature was conducted, combining expert opinion with a balanced review of the available literature. A search of PubMed, Google Scholar and Embase was conducted, using keywords "Sturge-Weber Syndrome" OR "SWS", "Capillary malformations", "G protein subunit alpha 11" OR "G protein subunit alpha Q". RESULTS: One of the hallmark features of SWS is the presence of a port-wine birthmark at birth, and forehead involvement is most indicative for SWS. The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma. Glaucoma presents in either in infancy (0-3 years of age) or later in life. Neurological complications are common in SWS, occurring in about 70%-80% of patients, with seizures being the most common one. SWS significantly impacts the quality of life for patients and their families, and requires a multidisciplinary approach for diagnosis and treatment. Currently, no disease-modifying therapies exist, and treatment is mostly focused on symptoms or complications as they arise.  CONCLUSIONS: SWS remains a complex and heterogeneous disorder. Further research is needed to optimize diagnostic and therapeutic strategies, and to translate insights from molecular pathogenesis to clinical practice.

Epilepsy in neurofibromatosis type 1: Prevalence, phenotype, and genotype in adults.

PURPOSE: Studies have shown an increased risk of epilepsy in patients with neurofibromatosis type 1 (NF1). However, most reports focus on the pediatric population. In this study, we describe the trajectory of patients with NF1 and epilepsy beyond childhood. METHODS: Patients with NF1 ≥18 years-old consecutively seen at a multidisciplinary neurofibromatosis clinic during a four-year period were prospectively enrolled and offered routine EEG, MRI, and genetic testing. The lifelong and point prevalence of epilepsy in patients with NF1 were calculated. Demographic, genetic, radiological, and clinical features found to be statistically associated with having received a diagnosis of epilepsy were incorporated into a logistic regression model. RESULTS: Among 113 patients with NF1 included in this study (median age at study inclusion: 33 years), the lifelong prevalence of epilepsy was 11% (CI95%=6-18%) and point prevalence 7% (CI95%= 3-13%). Most patients (73%) were diagnosed with epilepsy before the age of 18 and achieved seizure-freedom by adulthood. At study inclusion, three-quarters of patients with a diagnosis of epilepsy had been seizure-free for more than one year and a third had resolved epilepsy. A routine EEG with epileptiform discharges had a sensitivity of 25% (CI95%=3-65) and specificity of 99% (CI95%=93-100) for identifying adult patients with NF1 and unresolved epilepsy. A history of epilepsy was associated with having a low-grade glioma (OR: 38.2; CI95%=2.2-674.7; p<0.01), learning disability (OR: 5.7; CI95%=1.0-31.5; p<0.05), and no plexiform neurofibroma (OR: 0.05; CI95%=0.0-0.8; p=0.04). No single mutation type was associated with the development of epilepsy. CONCLUSIONS: In patients with NF1, although resolution of epilepsy over time was observed in many cases, the prevalence of epilepsy was higher among adults with NF1 than that reported in the general population. Epileptogenesis in NF1 likely requires the combination of multiple genetic and environmental factors and suggests involvement of a network that spreads beyond the borders of a well-defined parenchymal lesion.

Sturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.

Sturge- Weber syndrome (SWS), is a rare neuro-cutaneous angiomatosis which affects male and females alike. The clinical manifestations include angiomas, haemangiomas of the lips, tongue and palatine region. The oral manifestations are usually unilateral and are susceptible to bleed. Patients can also present with macroglossia and maxillary bone hypertrophy which can lead to malocclusion of the oral cavity. Food accumulation due to occlusion can cause growth of bacteria which can intensify infections and can cause gingival hyperplasia. A case of a middle-aged 39 year old female was reported in the Ziauddin Hospital, Karachi on 2nd of February,2022 with the presenting complaints of intermittent fever and drowsiness for 10 days. On examination she had massive tongue enlargement, drooling, malocclusion, difficulty in eating and breathing. She was a known case of Sturgeweber syndrome. Based on the clinical and radiological findings, she was managed along the lines of prelaryngeal soft tissue and submandibular infection.

Natural history and volumetric analysis of meningiomas in neurofibromatosis type 2.

OBJECTIVE: The objective of this paper was to describe the volumetric natural history of meningiomas in patients with neurofibromatosis type 2 (NF2). METHODS: The authors performed a retrospective descriptive study by reviewing NF2 patients with meningiomas at their institution between 2000 and 2019. Demographic data were collected from the electronic medical records. Tumor volume was collected using volumetric segmentation software. Imaging characteristics including peritumoral brain edema (PTBE) and tumor calcification were collected for each patient from their first to most recent MRI at the authors' institution. An increase of 15% or more per year from original tumor size was used as the cutoff to define growth. RESULTS: A total of 137 meningiomas from 48 patients were included in the analysis. The average number of tumors per person was 2.9. Ninety-nine (72.3%) tumors were in female patients. The median length of follow-up from first imaging to last imaging was 32 months (IQR 10.9, 68.3 months). Most tumors were located in the cerebral convexity (24.8%), followed by the falcine region (18.2%) and spine (10.2%). The median tumor growth was 0.12 cm3/yr (IQR 0.03, 0.52 cm3/yr). At the time of first imaging, 21.9% of tumors had calcifications, while 13.9% of meningiomas had PTBE. Of 137 tumors, 52 showed growth. Characteristics associated with tumor growth included PTBE (OR 9.12, 95% CI 1.48-56.4), tumor volume (per cm3) at first imaging (OR 0.91, 95% CI 0.83-0.99), and 10-year increased age at first imaging (OR 0.57, 95% CI 0.43-0.74). PTBE had the shortest median time to growth at 9.2 months. CONCLUSIONS: Although the majority of NF2-associated meningiomas do not grow in the short term, a wide range of growth patterns can be seen. Younger age at first imaging and presence of PTBE are associated with growth. Patients with these characteristics likely benefit from closer follow-up.

A Case Series of Plexiform Neurofibroma: The Unusual Presentations and Surgical Challenges.

Neurofibromatosis type one (NF-1) is an autosomal dominant neurocutaneous disorder also known as Von Recklinghausen disease. Plexiform neurofibroma is a rare kind of NF-1 where the neurofibroma originates from nerve sheath cells or subcutaneous peripheral nerves. It is pathognomonic of NF-1, and isolated occurrence is relatively rare. We reported three cases of solitary plexiform neurofibromas with an unusual presentation. We have two cases of spontaneous bleeding isolated plexiform neurofibroma that have never been reported in the literature. Neither one of them showed signs and symptoms associated with the neurofibromatosis spectrum. This unusual presentation poses substantial challenges in diagnosis and management.

Erythematous plaques of the vulvo-perineal region.

Skin conditions are a common reason for consulting primary health care. The public frequently expects their primary health care providers to be able to recognise and treat common skin conditions with confidence. Primary care providers must be able to identify 'red flag' skin conditions that require dermatology referral. However, diagnosis is often delayed due to the non-specific clinical presentation, low incidence, slow evolution and long-term history of such lesions. We report the case of a patient with extramammary Paget's disease that presented to her primary care provider and subsequently underwent a wide local excision.

An interesting case of lip swelling!

Melkersson-Rosenthal Syndrome (also termed "Miescher-Melkersson-Rosenthal Syndrome") or (MRS), is a rare neurocutaneous disorder characterized by the clinical triad of recurring facial nerve paralysis, swelling of one or both lips and fissural tongue. We report a patient with Melkersson-Rosenthal Syndrome initially referred to Dermatology Department as angioedema. The diagnosis and treatment procedures were presented with special emphasis to the clinical features of this rare condition.

An update on congenital melanocytic nevus syndrome: A case report and literature review.

Congenital melanocytic nevus syndrome (CMNS) is a rare condition characterized by pigmented skin lesions that are usually present at birth and are associated with an increased risk of neurological abnormalities and malignant melanoma. It mostly results from a post-zygotic NRAS mutation of neural-derived crest cells, leading to uncontrolled cell growth. Because of the increased knowledge of the genetics underlying CMNS, targeted therapy becomes a promising treatment option. We present a case of CMNS in a newborn. Physical examination at birth showed a giant congenital melanocytic nevus, extending from the occipital to the lower lumbar region. A magnetic resonance imaging scan revealed multiple cerebral and cerebellar parenchymal lesions. Genetic analysis of the cutaneous lesions showed the presence of an NRAS Q61R mutation. The patient was treated with dermabrasion to reduce the color intensity of the nevus. However, this was complicated by recurrent wound infections and laborious wound healing. At the age of 1 year, the patient had an age-appropriate psychomotor development, without neurological deficits.

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.

Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metabolism and lead to severe neurological symptoms. In a patient with cutis laxa, a choreoathetoid movement disorder, dysmorphic features and intellectual disability we performed exome sequencing to elucidate the underlying genetic defect. We identified the amino acid substitution R275W in phosphatidylinositol 4-kinase type IIα, caused by a homozygous missense mutation in the PI4K2A gene. We used lipidomics, complexome profiling and functional studies to measure phosphatidylinositol 4-phosphate synthesis in the patient and evaluated PI4K2A deficient mice to define a novel metabolic disorder. The R275W residue, located on the surface of the protein, is involved in forming electrostatic interactions with the membrane. The catalytic activity of PI4K2A in patient fibroblasts was severely reduced and lipid mass spectrometry showed that particular acyl-chain pools of PI4P and PI(4,5)P2 were decreased. Phosphoinositide lipids play a major role in intracellular signalling and trafficking and regulate the balance between proliferation and apoptosis. Phosphatidylinositol 4-kinases such as PI4K2A mediate the first step in the main metabolic pathway that generates PI4P, PI(4,5)P2 and PI(3,4,5)P3 . Although neurologic involvement is common, cutis laxa has not been reported previously in metabolic defects affecting signalling. Here we describe a patient with a complex neurological phenotype, premature ageing and a mutation in PI4K2A, illustrating the importance of this enzyme in the generation of inositol lipids with particular acylation characteristics.

Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease.

OBJECTIVE. The purpose of this study was to investigate whether MRI-typical and MRI-atypical intraosseous vascular malformations are associated with familial cerebral cavernous malformation (FCCM). MATERIALS AND METHODS. In a retrospective matched case-control study, two radiologists reviewed the spinal imaging, both CT and MRI, of 22 patients with FCCM seen between 2006 and 2017 and of age- and sex-matched control subjects for MRI-typical and MRI-atypical intraosseous vascular malformations. Quantitative analysis of lesions identified included vertebral level, size, and number of lesions. Pathologic samples from two lesions were analyzed for histologic and immunohistochemical features. Whether the presence of typical, atypical, and total intraosseous vascular malformations differed between patients and control subjects was tested. For patients with complete spinal imaging, whether intraosseous vascular malformations were associated with age, sex, brain lesion count, and spinal lesion count was also tested. RESULTS. MRI-atypical intraosseous vertebral malformations were more commonly present in patients with FCCM (p = 0.003). Sixteen lesions were found in nine patients and none in the control group. The numbers of MRI-typical intraosseous vascular malformations were similar between patients and control subjects (p = 0.480). Age was associated with typical intraosseous vascular malformations (p = 0.027), though not with atypical malformations. MRI-atypical malformations were larger (mean diameter double) than MRI-typical malformations (p = 0.023). Histologic analysis of two lesions from different patients with pathologic collapse revealed the same histologic features consistent with combined capillary-venous malformations. CONCLUSION. Vertebral capillary-venous malformations (MRI-atypical intraosseous vascular malformations) are common in patients with FCCM and may have a more aggressive clinical course than MRI-typical malformations.

Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism.

Neurocutaneous disorders are caused by germline and/or somatic mutations and involve the integument and central nervous systems. Congenital melanocytic nevus syndrome is characterized by melanotic skin lesions caused by somatic mutations at codon 61 in NRAS. A large cutaneous lesion raises the risk of central nervous system involvement. We report an 8-year-old girl with a congenital giant pigmented nevus that covered almost her entire back. Despite the absence of any radiological evidence of intracranial melanosis, the patient exhibited progressive limb spasticity with preserved intellectual ability. An extensive genetic analysis identified a specific class of heterozygous germline mutation in SPAST, p.(Arg499His), which is responsible for hereditary spastic paraplegia with infantile onset. In addition, a known heterozygous somatic mutation in NRAS, p.(Gln61Lys) was detected in the cutaneous lesion. This observation recapitulates concomitant mosaicism and non-mosaicism within a single individual and suggests that the possibility of a dual genetic diagnosis should be considered when neurological decline is observed in a patient with a neurocutaneous disorder without any detectable intracranial lesions.

Síndrome de Parry-Romberg: hemiatrofia facial progresiva. Reporte de caso / Parry-Romberg Syndrome: progressive facial hemiatrophy case report

INTRODUCCIÓN: el Síndrome de Parry-Romberg es un trastorno neurocutáneo, muy raro, caracterizado por hemiatrofia facial progresiva, su primer signo clínico es la asimetría facial, se presenta frecuentemente de manera simultánea con la esclerodermia lineal. PRESENTACIÓN DE CASO: femenina de 54 años de edad, con antecedente de hemiatrofia facial y alteración oftalmológica izquierda desde los 14 años. DISCUSIÓN: el Síndrome de Parry-Romberg inicia entre las primeras décadas de la vida con hiperpigmentación, atrofia de la dermis, grasa subcutánea, músculo y huesos subyacentes. La atrofia afecta la hemicara siguiendo la distribución del nervio trigémino y sus ramas; este caso coincidió con la edad de inicio, la lesión se limitó a la hemicara izquierda. CONCLUSIÓN: debe tenerse presente como diagnóstico diferencial en pacientes con alteración en la simetría facial de larga evolución sin causa aparente, el diagnóstico temprano evita las complicaciones graves, se recomienda un manejo multidisciplinario para mejorar la calidad de vida de los pacientes.

INTRODUCTION: parry-Romberg Syndrome is a neurocutaneous disorder, very rare and characterized by progressive facial hemiatrophy, the first clinical sign is facial asymmetry. SPR occurs simultaneously with high frequency with linear scleroderma. CASE PRESENTATION: a 54-year-old female, with a history of left facial hemiatrophy since she was 14 years old, presented a left ophthalmological alteration. DISCUSSION: Parry-Romberg Syndrome begins in the first decades of life with hyperpigmentation, atrophy of the dermis, subcutaneous fat, muscle and underlying bones. Atrophic affects the hemicara with distribution of the trigeminal nerve and its branches; this case coincided with the age of onset and the lesion was limited to the left hemicra. CONCLUSION: it should be borne in mind as a differential diagnosis in patients with long-standing facial symmetry alteration without apparent cause, early diagnosis avoids serious complications, multidisciplinary management is recommended to improve the quality of life of patients.

Hidrocefalia Congénita: Síndrome de Gómez-López-Hernández, un síndrome subdiagnosticado. Caso clínico / Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case

Resumen: Introducción: Las hidrocefalias son condiciones complejas influenciadas por factores genéticos y ambientales. Excluyendo las hidrocefalias adquiridas por infección o tumores encefálicos, las hidrocefalias congénitas de causa genética pueden ocurrir de forma aislada (hidrocefalia aislada, pura o no sindromática) o como componente de un síndrome genético definido (hidrocefalia sindromática). Objetivo: Presentar una hidrocefalia congénita sindromática con un diagnóstico co nocido, y realizar una revisión de la literatura. Caso clínico: Preescolar con diagnóstico prenatal de hidrocefalia y romboencefalosinapsis, cariotipo y estudio de TORCH normales. Al nacer se confirmaron los diagnósticos prenatales y se excluyó malformación del desarrollo cortical cerebral. En la primera semana de vida se realizó derivación ventrículo peritoneal. En una reevaluación a la edad de 4 años, la ausencia de reflejos corneales y alopecia parietal bilateral asociado a romboencefalosinapsis reunieron los criterios diagnósticos definitivos de una displasia cerebelo-trigémino dermal (Síndrome de Gómez, López-Hernández (SGLH)). Conclusiones: El SGLH es un síndro me neurocutáneo infrecuente, posiblemente una condición esporádica que está subdiagnostica da. Con las nuevas tecnologías imageneológicas y genéticas pre y post natales podemos acceder a un diagnóstico de precisión de las hidrocefalias de origen genético, en el cual la alta sospecha de equipos de especialistas clínicos es esencial. Sin el diagnóstico preciso no podemos acceder a un pronóstico a largo plazo, prevención de morbilidad agregada y un consejo genético adecuado, que son requeridos en la pediatría actual.

Abstract: Introduction: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). Objective: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. Clinical case: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). Conclusions: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.

Telangiectasias: Small lesions referring to serious disorders.

Telangiectasias are prominent small vessels (venules, capillaries or arterioles) that are visible as small red-purple focal lesions in the skin and mucous membranes. They can serve as a cutaneous marker for a number of primary (mostly hereditary) disorders and they can be secondary to other (systemic) diseases. Patients with telangiectasias are seen by general health practitioners, pediatricians, (pediatric) neurologists, dermatologists, and ophthalmologists. In this article we give an overview of the different disorders in which telangiectasias are a prominent feature, focusing on neurocutaneous disorders in which they serve as a marker for establishing the right diagnosis. The pattern of distribution of the telangiectasias, their age of onset and associated features are helpful to distinguish between the different disorders.

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome.

Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders-TSC, neurofibromatosis type 1, and SWS.

Hipomelanosis de ito en paciente de 15 meses / Hypomelanosis of Ito in a patient 15 months

La Hipomelanosis de Ito (HI) es un trastorno neurocutáneo poco prevalente en Chile y el mundo, caracterizado por lesiones hipopigmentadas que siguen las líneas de Blaschko y que se asocian principalmente a alteraciones del sistema nervioso central y/o musculoesqueléticas. Se origina como expresión de un mosaicismo inespecífico de las células pigmentarias, durante la embriogénesis. Se presenta el caso de un paciente masculino de 15 meses con lesiones hipopigmentadas características, retraso del desarrollo psicomotor, crisis convulsivas tónico ­ clónicas, microcefalia, hipotonía central severa e hipoacusia bilateral, retraso en el desarrollo dental y dismorfias faciales. Se realizó estudio, resultando sin alteraciones metabólicas, excepto por aumento progresivo de TSH (11,3 mUI/L), por lo cual se inicia tratamiento con levotiroxina. Con los hallazgos clínicos y resultados de laboratorio descritos se planteó diagnóstico de mosaicismo pigmentario, continuando estudio de forma ambulatoria. En cuanto al diagnóstico, se recomienda la utilización de los criterios de Ruiz-Maldonado que consideran la presencia de lesiones cutáneas asociado a un criterio mayor o dos menores para determinar el diagnóstico definitivo (Ver Tabla 1). La patología más importante a descartar, es la Incontinencia Pigmentaria, que se caracteriza por estar ligado exclusivamente al cromosoma X y evolución por etapas de las lesiones cutáneas en las líneas de Blaschko. En la actualidad la HI solo tiene tratamiento sintomático por cual es importante hacer un diagnóstico precoz para sobrellevar la patología adecuadamente.

Hypomelanosis of Ito (HI) is a rarely prevalent neurocutaneous disorder in Chile and the world, that is characterized by hypopigmented lesions following Blasko lines that are primarily asociated with Central Nervous Sistem and or musculoskeletal disorders. It origins as an expression of an inespecific mosaicisism of the pigmented cells during embriogénesis. We present a case of a 15 months pediatric male patient with characteristic hypopigmented lesions, delayed psychomotor development, tonic-clonic seizures, microcephaly, central hypotonia and bilateral hypoacusia, delayed dental development and facial dysmorphia. He was hospitalized for further studies resulting without metabolic disorders except for progressive enhancement of TSH (11,3 mUI/L), and thyroxine supplement was initiated. With the described clinical and laboratory findings we proposed the diagnosis of Pigmentary Mosaicism and continued ambulatory treatment. Regarding the diagnosis, given the low prevalence of this disease we recommend the use of Ruiz ­ Maldonado criteria wich considers the precense of cutaneous lesions associated with one mayor or two minor criteria for the definitive diagnosis previously discarding the more frecuent diseases. Speaking about the differential diagnosis the most important disease is Pigmentary Incontinence, characterized by its exclusive presentation in female patients and the phasic evolution of the cutaneous lesions in Blasko lines. Nowadays the IH has only sintomatic treatment wich is why its important to make an early diagnosis in order to endure adequately the disease.

Hypomelanosis of Ito.

Hypomelanosis of Ito, initially referred to as incontinentia pigmenti achromians, is a rare neurocutaneous disorder. Hypopigmented lesions following the lines of Blaschko are usually the presenting feature. Multiple organ systems can be involved including brain, musculoskeletal, cardiovascular, eyes, kidneys, and teeth. The neurologic complications can include seizures, hemimegalencephaly, developmental delay and abnormalities in tone. Genetic mosaicism is the most likely explanation for its inheritance. It must be distinguished from incontinentia pigmenti because at early stages, skin lesions can appear similar between the two conditions. Consensus recommendations for screening of associated extracutaneous conditions do not exist and management is symptomatic, but regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should occur. Initial screening of renal function has also been recommended. Awareness of this disorder will allow for diagnosis, genetic counseling and appropriate screening.