CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion

Abstract: CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.

Analysis of clinical phenotype and TGM1 gene mutation in a child with neonatal congenital ichthyosis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for a child with congenital ichthyosis.@*METHODS@#The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous mutations c.327delG (p.Met109Ilefs*2) and c.791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c.327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein.@*CONCLUSION@#The compound heterozygous mutations of c.327delG and c.791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree.

Síndrome de Netherton: el caso de un recién nacido con insuficiencia respiratoria / Netherton syndrome: A neonatal case with respiratory insufficiency

El síndrome de Netherton (SN) es una enfermedad autosómica recesiva, muy poco frecuente, que se caracteriza por la presencia de eritrodermia ictiosiforme congènita, anomalías capilares y manifestaciones atópicas. Este síndrome es consecuencia de una mutación recesiva en el gen SPINK5. Las manifestaciones del síndrome de SN varían considerablemente entre las personas que lo padecen. Aquí informamos el caso de un recién nacido que presentaba insuficiencia respiratoria grave, hipotermia y eritrodermia, al que se le diagnosticó SN, confirmado mediante pruebas genéticas moleculares.

Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.

Cisto ductal de glândula lacrimal em paciente com eritrodermia ictiosiforme congênita / Ductal cyst of lacrimal gland in patient with congenital ichthyosiform erythroderma

Resumo A ictiose lamelar é uma doença congênita de herança autossômica recessiva que se caracteriza clinicamente por descamação de toda a superfície corporal devido hiperceratose mucocutânea que pode levar a comprometimento oftalmológico. Neste estudo relatamos um caso de cisto ductal de glândula lacrimal em paciente portador de ictiose lamelar atendido no Hospital Oftalmológico de Anápolis.

Abstract Lamellar ichthyosis is a congenital disease autosomal recessive which is characterized clinically by peeling of all the body surface due hyperkeratosis mucocutaneous that can cause ocular involvement. We reported a case of ductal cyst of the lacrimal gland in patient with lamellar ichthyosis attended in the Ophthalmological Hospital of Anápolis.

Chanarin-Dorfman syndrome: a case report and review of the literature

Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. Case report: A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings

Enterocolitis necrotizante fulminante en un bebé colodión: caso clínico / Fulminant necrotizing enterocolitis in a collodion baby: a case report

Introducción: El bebé colodión es una ictiosis neonatal muy poco frecuente. La piel apergaminada, amarilla y dura que recubre el cuerpo resulta ser una barrera ineficaz, que predispone a la deshidratación, pérdida de calor e infecciones. El mejor manejo de estos pacientes ha permitido aumentar su supervivencia, pero su comorbi-lidad requiere de un seguimiento estricto y cauteloso. Objetivo: Describir un caso de enterocolitis fulminante desarrollada en un bebé colodión, con el fin de ayudar a la identificación más precoz de esta patología. Caso clínico: Recién nacido de 34 semanas, con membrana colodión, que ingresa en la unidad de cuidados intensivo con dificultad respiratoria severa. Se mantiene en una incubadora con humedad, aplicando emolientes y lubricación cutánea y oftalmológica. Se inició tratamiento antibiótico de amplio espectro. El quinto día de vida, comenzó con intolerancia a la alimentación, desarrollándose una enterocolitis fulminante que le ocasionó el fallecimiento. Conclusiones: La asociación con enterocolitis necrosante en un bebé colodión no ha sido descrita en la literatura, por lo que, ocasiona una demora diagnóstica y esto contribuye a una evolución fulminante que puede ocasionar la muerte. El tener presente esta infrecuente comorbilidad podrá favorecer su pesquisa para el manejo oportuno.

Introduction: Collodion baby is a rare neonatal ichthyosis. The leathery, hard and yellow skin that covers the body is an ineffective barrier that predisposes to dehydration, heat loss and infections. A better management of these patients has been shown to increase survival, but the comorbidity requires strict and cautious monitoring. Objective: To describe a case of fulminant enterocolitis in a collodion infant in order to help to identify early this pathology. Case report: A 34-week newborn with collodion membrane was admitted to the intensive care unit with severe respiratory distress. The baby was maintained in an incubator with humidity, applying emollients and skin and eye lubrication. Broad-spectrum antibiotic treatment was initiated. The patient presented feeding intolerance on the fifth day of life, developing a fulminant enterocolitis resulting in death. Conclusion: The necrotizing enterocolitis associated with a collodion baby has not been described in the literature, causing a delay in diagnosis and contributing to a fulminant course that can lead to death. Keeping in mind this rare comorbidity may facilitate a timely management.

Bebé colodión: su evolución; presentación de tres casos / Collodion baby: its evolution; report of three cases

El bebé colodión se caracteriza por la presencia de una membrana que cubre la totalidad de la piel del recién nacido. La mayoría de los niños que presenta esta membrana desarrolla ictiosis, siendo la eritrodermia ictiosiforme congénita no ampollar la forma más frecuente, seguida de la ictiosis lamelar y la ictiosis vulgar. No existen características clínicas ni histológicas que sirvan de guía para predecir el diagnóstico final. Estos niños presentan complicaciones debido a las alteraciones de la función de barrera de la piel, como deshidratación hipernatrémica, hipotermia e infecciones cutáneas y sistémicas. Sin embargo el pronóstico de este cuadro ha mejorado en los últimos años debido a los mejores cuidados intensivos neonatales. Presentamos tres casos de bebé colodión evaluados en el servicio de Dermatología del Complejo Hospitalario de Pontevedra (España) y describimos sus características clínicas, tratamientos, complicaciones, pruebas complementarias realizadas y diagnóstico final. A pesar de que el bebé colodión es un fenotipo infrecuente, destacamos la importancia de conocer su tratamiento, así como los diferentes procesos a los que puede dar lugar...

Collodion baby consists on a membrane covering the whole body surface of a newborn. Most children born as collodion baby develop ichthyosis, being the most frequent the non-bullous congenital ichthyosiform erythroderma, followed by lamellar ichthyosis and ichthyosis vulgaris. There are no distinctive clinical or histological features that can be used to predict the final diagnosis. These children have complications due to the impaired barrier function, such as hypernatraemic dehydration, hypothermia, or cutaneous and systemic infections. However the prognosis has dramatically improved over time with the development of neonatal intensive care. We present three cases of collodion baby seen at the Dermatology Service of the Pontevedra Hospital Complex (Spain) and describe their clinical characteristics, treatments, complications, diagnostic procedures and final diagnoses. Despite collodion baby is an uncommon entity, we highlight the importance of knowing its treatment and the different processes that may arise from it...

Bebé colodión: reporte de un caso / Collodion baby: a case report

El término bebé colodión define una rara dermatosis del recién nacido, caracterizada por una gruesa membrana que cubre la superficie corporal. Se describe el caso de un recién nacido masculino de parto eutócico de 38 semanas de gestación, con un peso al nacer de 3300 g, apgar en el momento del parto fue de 8/9, que al nacimiento presentó un cuadro cutáneo caracterizado por la presencia de una membrana gruesa y tensa que recordaba el pergamino o colodión, la cual recubría todo su cuerpo, ectropion palpebral, aplanamiento de las orejas y la nariz, en las primeras horas aparecieron fisuras en bandas en abdomen, cuello, muñecas, codo, axilas y región inguinal con posterior descamación en grandes láminas. Recibe atención especializada y estudio en servicio de neonatología del hospital sin presentar complicaciones; se trató la piel localmente con lubricantes no oclusivos. Diagnóstico: bebé colodión.

The collodion baby term defines a newborn rare dermatosis characterized by a thick membrane covering body surface. It describes a case of a newborn male from a vaginal delivery at 38 weeks of gestation, with a birth weight of 3300 g, Apgar score at the time of delivery was 8/9, which at birth showed a cutaneous picture characterized by the presence of a thick and tight membrane, that recalled the parchment or collodion, which covered them all over his body, eyelid ectropion, flattening of ears and nose, in the early hours cracks appear in bands on abdomen, neck, wrists, elbows, armpits and inguinal region with subsequent erythroderma with big scales.He receives specialized care and neonatology service study without complications, skin was treated locally with nonocclusive lubricants. Diagnosis: Collodion baby.

Presentación de un caso de hemidisplasia congénita con ictiosis eritrodérmica / Report of a congenital hemidysplasia with erythrodermic ichthyosis

La hemidisplasia congénita con ictiosis y defectos de las extremidades es una enfermedad infrecuente, hereditaria, monogénica, que se transmite como un rasgo dominante ligado al cromosoma X. Se presenta el caso de una paciente con este diagnóstico clínico neonatal, que presentaba eritrodermia ictiosiforme en el hemicuerpo derecho, acompañada de hipomelia del miembro superior e inferior derechos, defectos óseos en miembros afectados y columna vertebral, agenesia renal unilateral, cardiopatía congénita de tipo comunicación interventricular conoventricular y arteria umbilical única. Se realizaron las interconsultas necesarias, estudios sonográficos y radiológicos para completar el diagnóstico y se ofreció asesoramiento genético y seguimiento del caso según las complicaciones reportadas en la literatura médica y los hallazgos clínicos de la paciente.

Congenital hemidysplasia with icthyosis and limb defects is a hereditary, monogenic and infrequent disease transmitted as a dominant trait linked to the X chromosome. The case of a female patient with this neonatal clinical diagnosis showing ichthyosiform erythroderma on the right hemibody, accompanied with hypomelia of the right upper and lower limbs, bone defects in the affected limbs and spinal column, unilateral renal agenesia, congenital heart disease with inter- and conoventricular communication, and a unique umbilical artery was reported. The necessary inter-consultations were arranged and sonographic and radiological studies were conducted to complete the diagnosis. Genetic counselling was given and the case was followed up according to the complications reported in medical literature, and to the clinical findings of the patient.

Tay syndrome.

Tay syndrome or IBIDS is a rare autosomal recessive genetic disorder characterized by congenital ichthyosis and abnormal brittle hair (trichothiodystrophy). Other features include photosensitivity, abnormal nails and multiple developmental defects affecting organs mainly derived from neuroectoderm. The exact prevalence of this condition is not known, but up to 1991, clinical data of 15 cases with IBIDS were published .We report a case of Tay syndrome with additional features of Duane's retraction syndrome and Perthes disease, which have not yet been reported in literature.

[Hereditary ichthyosis in Tunisia: epidemiological study of 60 cases]

Ichthyosis are a group of inherited keratinizing disorders. The cutaneous abnormalities may be isolated or associated with extra-cutaneous symptoms. To report the epidemiological and clinical profiles of patients with these genodermatoses from a hospital Tunisian study. A retrospective study of all cases of ichihyosis referred during a period of 5 years to the department of dermatology of Charles Nicole's hospital of Tunis. Sixty cases of hereditary ichihyosis were seen. The sex-ratio was of 0.5. Parental consanguinity was noted in 36 patients [60%]. Seventeen patients [25.7%] had a positive familial history of ichthyosis. The clinical form of ichthyosis was determined in 52 cases. The nonbullous ichthyosiform erythroderma was observed in 25 patients [41.6%]. Sixty patients presented an ichihyosis vulgaris [26.6%]. The other forms of ichthyosis were rarely observed: 4 cases of X-linked recessive ichthyosis, 2 cases of lamellar ichthyosis and 2 cases of bullous iclithyosiform erythroderma. Two patients were born with collodion-like membranes. Two cases presented a complex syndrome. The NBIE, commonly considered as a rare form of ichthyosis, was the most frequently form seen in our study [41.6%], probably because of the high frequency of consanguineous marriages in Tunisia. The IV represents the most frequent form reported in the litterature and was observed in 25% of our patients. The classification of some ichthyosis associated with other extra-cutaneous abnormalities [found in 2 of our patients] remains difficult

Multicystic dysplastic kidney in association with congenital ichthyosiform erythroderma

Multicystic dysplastic kidney is a noninherited congenital disease. Association of this disease with abnormalities of various organs is common. We, however, report a rare case of multicystic dysplastic kidney associated with congenital ichthyosiform erythroderma in an infant. Different developmental origins of the skin and the kidney can explain the scarcity of concurrent congenital skin and kidney abnormalities. Nonetheless, the development of both organs depends on mesenchyme-epithelial interactions for inductive signaling. It seems defects in the production of signaling molecules can explain such an association

A Case of Congenital Ichthyosiform Erythroderma

No abstract available.

A Case of Netherton's Syndrome in a Newborn

Netherton's syndrome is an unusual disorder which consists of triad of ichtyosiform dermatosis, multiple defects of hair shaft and an atopic diathesis. The finding of bamboo hair is pathognomic in Netherton's syndrome and the ichthyosiform dermatosis may consist of either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Often, variability in the clinical features leads to a delay in diagnosis in many cases. We report a case of Netherton's syndrome diagnosed in the neonatal period. The patient presented with severe ichthyosis and confirmed microscopically distinctive bamboo hair.

El uso de acitretin en el tratamiento de la eritrodermia ictiosiforme congénita ampollar / Acitretin therapy for congenital bullous ichthyosiform erythroderma

La eritrodermia ictiosiforme congénita ampollar constituye una forma rara de ictiosis de carácter autosómico dominante, que presenta eritema generalizado y ampollas desde el nacimiento, que posteriormente son reemplazadas por escamas gruesas, oscuras y adherentes, predominando en flexuras. El tratamiento de esta condición puede resultar muy difícil. Si bien los retinoides sistémicos constituyen el tratamiento de elección para los trastornos de la queratinización, las dosis elevadas pueden desencadenar fragilidad cutánea y formación de ampollas. Se discute el uso de acitretin y los efectos secundarios en esta forma de ictiosis

Hiperqueratosis epidermolítica eirtrodermia ictiosiforme congénita ampollar

La hiperqueratosis epidermolítica, es una genodermatosis de presentación poco frecuente, es heredada con carácter autosómico dominante, pudiendo existir variantes clínicas o formas incompletas por mutaciones, con casos únicos en la familia, como sucede en el presente caso, material de nuestro trabajo. Una vez revisada la literatura y dados los cambios que ocurren a nivel de los genes de los queratinocitos: insistimos, en la necesidad del consejo genético a 105 padres; abarcamos las tentativas terapéuticas, relevamos el éxito obtenido con el acitretin; pero, considerando que es una enfermedad hereditaria, es imperioso realizar controles periódicos y un mantenimiento básicamente con medicación tópica.