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3.
J Med Primatol ; 49(1): 52-55, 2020 02.
Article in English | MEDLINE | ID: mdl-31657466

ABSTRACT

Hypomelanosis of Ito is a rare neurocutaneous syndrome, characterized by streaks and swirls of hypopigmentation arranged in a Blaschkoid pattern. Other associated anomalies are observed. We report a case of a male cynomolgus monkey (Macaca fascicularis) who presented the characteristic of hypomelanosis of Ito with palmoplantar involvement and polythelia.


Subject(s)
Hypopigmentation/veterinary , Macaca fascicularis , Monkey Diseases/physiopathology , Animals , Hypopigmentation/physiopathology , Male
6.
Pediatr Dermatol ; 36(4): 511-513, 2019 Jul.
Article in English | MEDLINE | ID: mdl-30983016

ABSTRACT

Piebaldism is a rare autosomal dominant disorder of pigmentation that is characterized by variable patches of depigmentation on the face, chest, abdomen, and extremities. We describe two cases of piebaldism, in whom the remarkable asymmetric distribution of the depigmented patches in a connected, contiguous pattern across the legs provides embryologic insights. This finding is not explained by the traditional theory that melanocytic migration only originates in the neural crest and progresses unilaterally down each leg. We propose that our cases, and other similar cases, can be explained by a recent theory of mesodermal melanocyte migration.


Subject(s)
Cell Movement/genetics , Genetic Predisposition to Disease , Hypopigmentation/physiopathology , Melanocytes/cytology , Piebaldism/diagnosis , Piebaldism/genetics , Adolescent , Female , Humans , Hypopigmentation/genetics , Infant , Lower Extremity/physiopathology , Male , Pedigree , Rare Diseases
7.
J Burn Care Res ; 40(1): 58-71, 2019 01 01.
Article in English | MEDLINE | ID: mdl-30189005

ABSTRACT

Hypertrophic scar (HTS) occurs frequently after burn injury. Treatments for some aspects of scar morbidity exist, however, dyspigmentation treatments are lacking due to limited knowledge about why scars display dyschromic phenotypes. Full thickness wounds were created on duroc pigs that healed to form dyschromic HTS. HTS biopsies and primary cell cultures were then used to study pigmentation signaling. Biopsies of areas of both pigment types were taken for analysis. At the end of the experiment, melanocyte-keratinocyte cocultures were established from areas of differential pigmentation. Heterogeneously dyspigmented scars formed with regions of hyperpigmentation and hypopigmentation. Melanocytes were present in both pigment types measured by S100ß quantitative real time-polymerase chain reaction (qRT-PCR) and immunostaining, and visualized by dendritic cell presence in primary cultures. P53 expression was not different between the two pigment types. Hyperpigmented scars had upregulated levels of proopiomelanocortin (POMC), adrenocorticotropic hormone (ACTH), α-melanocyte stimulating hormone (α-MSH), stem cell factor (SCF), and c-KIT and melanocortin 1 receptors (MC1R) compared to hypopigmented regions. Many genes involved in dyspigmentation were differentially regulated by microarray analysis including MITF, TYR, TYRP1, and DCT. MiTF expression was not different upon further exploration, but TYR, TYRP1, and DCT were upregulated in intact biopsies measured by qRT-PCR and confirmed by immunostaining. This is the first work to confirm the presence of melanocytes in hypopigmented scar using qRT-PCR and primary cell culture. An understanding of the initial steps in dyspigmentation signaling, as well as the downstream effects of these signals, will inform treatment options for patients with scars and provide insight to where pharmacotherapy may be directed.


Subject(s)
Burns/physiopathology , Cicatrix, Hypertrophic/physiopathology , Hypopigmentation/physiopathology , Melanocytes/cytology , Animals , Biomarkers/metabolism , Biopsy , Coculture Techniques , Keratinocytes/cytology , Signal Transduction , Swine , Up-Regulation
8.
Am J Med Genet A ; 179(1): 123-129, 2019 01.
Article in English | MEDLINE | ID: mdl-30561107

ABSTRACT

Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.


Subject(s)
Bone Diseases, Developmental/physiopathology , Filamins/genetics , Fingers/abnormalities , Genetic Diseases, X-Linked/physiopathology , Limb Deformities, Congenital/physiopathology , Osteochondrodysplasias/physiopathology , Pigmentation Disorders/physiopathology , Skin/physiopathology , Toes/abnormalities , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/diagnostic imaging , Bone Diseases, Developmental/genetics , Child, Preschool , Female , Fingers/diagnostic imaging , Fingers/physiopathology , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/diagnostic imaging , Genetic Diseases, X-Linked/genetics , Hand/physiopathology , Humans , Hypopigmentation/diagnostic imaging , Hypopigmentation/genetics , Hypopigmentation/physiopathology , Infant , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/genetics , Mutation , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/genetics , Phenotype , Pigmentation Disorders/diagnosis , Pigmentation Disorders/diagnostic imaging , Pigmentation Disorders/genetics , Toes/diagnostic imaging , Toes/physiopathology , Turkey/epidemiology
10.
Int J Dermatol ; 57(5): 559-565, 2018 May.
Article in English | MEDLINE | ID: mdl-29516488

ABSTRACT

BACKGROUND: Idiopathic guttate hypomelanosis (IGH) is a pigmentary disorder of unknown pathogenesis characterized by small discrete white macules. In the skin, epidermal melanin unit between melanocytes and keratinocytes is responsible for melanin synthesis and equal distribution of melanin pigment. OBJECTIVE: Therefore, this study was designed to check the role of melanocytes in the pathogenesis of IGH. METHODS: For this study, six IGH patients and six controls were enrolled. Melanin content was checked in the skin sections and in the cultured melanocytes. Senescence was checked in the lesional skin of IGH patients by comparing the mRNA and protein expression of senescence markers p16, hp1, and p21. RESULTS: Cultured melanocytes from the IGH patients showed morphological changes in comparison to the control melanocytes. Melanocytes from IGH patients were bigger in size with very small and retracted dendrites as compared to the control melanocytes. Melanin accumulation was more in the IGH patients as compared to the controls. Our results showed that expression of p16, p21, and hp1 was significantly higher in lesional skin of IGH patient as compared to healthy controls. CONCLUSION: This study revealed large-sized melanocytes with small and retracted dendrites in IGH patients. Accumulation of more melanin in the IGH melanocytes might be due to problem in the transfer of melanin from melanocytes to keratinocytes. Accumulation of melanin can lead to the senescence in the melanocytes of IGH patients.


Subject(s)
Cell Communication/physiology , Hypopigmentation/pathology , Hypopigmentation/physiopathology , Keratinocytes/pathology , Melanocytes/pathology , Adult , Aging/genetics , Biopsy, Needle , Case-Control Studies , Cells, Cultured , Female , Humans , Hypopigmentation/metabolism , Immunohistochemistry , Male , Middle Aged , RNA, Messenger/metabolism , Real-Time Polymerase Chain Reaction/methods , Reference Values
11.
J Dermatol Sci ; 89(2): 155-164, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29146131

ABSTRACT

BACKGROUND: Tuberous sclerosis complex (TSC) gene mutations lead to constitutive activation of the mammalian target of rapamycin (mTOR) pathway, resulting in a broad range of symptoms. Hypopigmented macules are the earliest sign. Although we have already confirmed that topical rapamycin treatment (an mTOR inhibitor) protects patients with TSC against macular hypopigmentation, the pathogenesis of such lesions remains poorly understood. OBJECTIVE: Recently emerging evidence supports a role for autophagy in skin pigmentation. Herein, we investigated the impact of autophagic dysregulation on TSC-associated hypopigmentation. METHODS: Skin samples from 10 patients with TSC, each bearing characteristic hypopigmented macules, and 6 healthy donors were subjected to immunohistochemical and electron microscopic analyses. In addition, TSC2-knockdown (KD) was investigated in human epidermal melanocytes by melanin content examination, real-time PCR, western blotting analyses, and intracellular immunofluorescence staining. RESULTS: Activation of the mTOR signaling pathway decreased melanocytic pigmentation in hypopigmented macules of patients with TSC and in TSC2-KD melanocytes. In addition, LC3 expression (a marker of autophagy) and autophagosome counts increased, whereas, intracellular accumulation of autophagic degradative substrates (p62 and ubiquitinated proteins) was evident in TSC2-KD melanocytes. Furthermore, depigmentation in TSC2-KD melanocytes was accelerated by inhibiting autophagy (ATG7-KD or bafilomycin A1-pretreatment) and was completely reversed by induction of autophagy via mTOR-dependent (rapamycin) or mTOR-independent (SMER28) exposure. Finally, dysregulation of autophagy, marked by increased LC3 expression and accumulation of ubiquitinated proteins, was also observed in melanocytes of TSC-related hypopigmented macules. CONCLUSION: Our data demonstrate that melanocytes of patients with TSC display autophagic dysregulation, which thereby reduced pigmentation, serving as the basis for the hypomelanotic macules characteristic of TSC.


Subject(s)
Autophagy/physiology , Hypopigmentation/physiopathology , Melanocytes/physiology , Tuberous Sclerosis/physiopathology , Tumor Suppressor Proteins/metabolism , Allyl Compounds/pharmacology , Autophagy/drug effects , Epidermal Cells , Epidermis/metabolism , Epidermis/ultrastructure , Gene Knockdown Techniques , Humans , Hypopigmentation/drug therapy , Hypopigmentation/genetics , Immunosuppressive Agents/pharmacology , Immunosuppressive Agents/therapeutic use , Macrolides/pharmacology , Melanins/metabolism , Melanocytes/drug effects , Melanocytes/ultrastructure , Microscopy, Electron , Microtubule-Associated Proteins/metabolism , Primary Cell Culture , Quinazolines/pharmacology , RNA, Small Interfering/metabolism , Signal Transduction/drug effects , Signal Transduction/genetics , Sirolimus/pharmacology , Sirolimus/therapeutic use , TOR Serine-Threonine Kinases/antagonists & inhibitors , TOR Serine-Threonine Kinases/metabolism , Tuberous Sclerosis/drug therapy , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 2 Protein , Tumor Suppressor Proteins/genetics
12.
Am J Med Genet A ; 173(9): 2522-2527, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28748650

ABSTRACT

Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with a crucial role in autophagosome-lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality. Here, we present a fetus, offspring of consanguineous parents, in whom callosal agenesis and other developmental brain abnormalities were detected on fetal ultrasound scan (US) and subsequent MRI scan in the second trimester. Postmortem examination performed after medically indicated termination of pregnancy confirmed CNS abnormalities and provided additional evidence for skin hypopigmentation, nascent cataracts, and hypertrophic cardiomyopathy. Genetic testing prompted by a suggestive combination of features revealed a homozygous EPG5 mutation (c.5870-1G>A) predicted to cause aberrant splicing of the EPG5 transcript. Our findings expand the phenotypical spectrum of EPG5-related Vici syndrome and suggest that this severe condition may already present in utero. While callosal agenesis is not an uncommon finding in fetal medicine, additional presence of hypopigmentation, cataracts and cardiomyopathy is rare and should prompt EPG5 testing.


Subject(s)
Agenesis of Corpus Callosum/genetics , Aicardi Syndrome/genetics , Cataract/genetics , Immunologic Deficiency Syndromes/genetics , Proteins/genetics , Age of Onset , Agenesis of Corpus Callosum/diagnostic imaging , Agenesis of Corpus Callosum/physiopathology , Aicardi Syndrome/physiopathology , Autophagy-Related Proteins , Autopsy , Cataract/diagnostic imaging , Cataract/physiopathology , Consanguinity , Fetus/diagnostic imaging , Fetus/physiopathology , Humans , Hypopigmentation/genetics , Hypopigmentation/physiopathology , Immunologic Deficiency Syndromes/diagnostic imaging , Immunologic Deficiency Syndromes/physiopathology , Lysosomal Membrane Proteins , Magnetic Resonance Imaging , Mutation , Phenotype , Prenatal Diagnosis , Vesicular Transport Proteins
13.
Doc Ophthalmol ; 135(1): 77-83, 2017 08.
Article in English | MEDLINE | ID: mdl-28593392

ABSTRACT

PURPOSE: Patients with unusual macular retinal pigment epithelium (RPE) hypopigmentation are described and analyzed using retinal multimodal imaging. METHODS: We report three cases of patients with unilateral (2) or bilateral (1) macular lesions discovered incidentally on fundoscopy. A comprehensive ophthalmic examination including visual acuity, fundoscopy, spectral-domain optical coherence tomography (SD-OCT), short-wavelength light and near-infrared autofluorescence, fluorescein angiography, microperimetry, multifocal electroretinogram, adaptive optics (AO), and OCT-angiography (OCT-A) has been performed. RESULTS: Visual acuity was 20/20 in both eyes of all patients. The lesion appeared hyperautofluorescent on short-wavelength light and hypoautofluorescent on near-infrared light. Fluorescein angiography revealed a sharply demarcated macular hyperfluorescence without any leakage, suggesting a window defect. Interestingly, SD-OCT revealed only a choroidal hyperreflectivity in relation to the lesions without any abnormality of the outer retinal layers. Microperimetry was normal except for 1 patient with bilateral lesion and subtle decrease in macular sensitivity. Mf ERG was normal in all three patients. AO showed a well-preserved cone mosaic, suggesting that the abnormality was localized under the photoreceptor layers. OCT-A revealed hyperreflectivity just below the RPE layer, corresponding to the macular lesion observed on fundoscopy and the choroidal hyperreflectivity seen on SD-OCT. CONCLUSIONS: Macular RPE hypopigmentation should be considered in case of an isolated macular lesion without functional visual impairment or anatomical defect on SD-OCT.


Subject(s)
Hypopigmentation/diagnosis , Multimodal Imaging , Retinal Dystrophies/diagnosis , Retinal Pigment Epithelium/pathology , Vision Disorders/physiopathology , Visual Acuity/physiology , Adult , Aged , Electroretinography , Female , Fluorescein Angiography , Humans , Hypopigmentation/physiopathology , Male , Ophthalmoscopy , Retinal Dystrophies/physiopathology , Tomography, Optical Coherence/methods , Visual Field Tests
14.
Skinmed ; 15(2): 125-127, 2017.
Article in English | MEDLINE | ID: mdl-28528606

ABSTRACT

Melanocytes, the cells responsible for skin pigmentation, are present in other parts of the body, such as the ocular, auditory, nervous, and cardiac systems. Within these systems, their roles serve a different purpose than their classical counterparts in skin as pigment cells. Such roles include cell turnover in retinal pigment epithelium, maintenance of balance and prevention of environmental damage in the auditory neuroepithelium, role-playing as dendritic cells within the leptomeninges, and prevention of oxidative damage in adipose tissue. Vitiligo, commonly known as a skin pigmentation disorder, has also been associated with several systemic disorders, such as Vogt-Koyanagi-Harada disease and Alezzandrini, Kabuki, and MELAS syndromes. Therefore, since these conditions involve compromise of systems in which melanocytes reside, it is not surprising that vitiligo has other systemic associations. The authors present a detailed review of systemic associations of vitiligo and melanocytes' roles in other organ systems with a focus on systemic disease.


Subject(s)
Melanocytes/pathology , Uveomeningoencephalitic Syndrome/pathology , Vitiligo/pathology , Cell Movement/physiology , Cell Proliferation , Cell Transformation, Neoplastic/pathology , Cells, Cultured , Diagnosis, Differential , Disease Progression , Female , Humans , Hypopigmentation/pathology , Hypopigmentation/physiopathology , Male , Melanocytes/cytology , Prognosis , Risk Assessment , Uveomeningoencephalitic Syndrome/diagnosis , Vitiligo/physiopathology
15.
Int J Rheum Dis ; 20(6): 767-773, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28261995

ABSTRACT

AIM: Cutaneous involvement is an early manifestation of systemic sclerosis (SSc). Localized areas of 'salt and pepper skin' (S&P) may develop. We hypothesize that S&P skin occurs frequently in diffuse cutaneous (dc) SSc which can be used in its early diagnosis and may correlate with joint contractures. METHODS: Sixty-five patients were recruited for this study. The demographic profiles of SSc were ascertained from hospital records. These patients fulfilled the 2013 American College of Rheumatology/European League Against Rheumatism classification criteria. Patients were examined for skin pigmentary changes, modified Rodnan skin score (mRSS), telengiectasias, calcinosis, arthritis and joint contractures and pruritus. RESULTS: Sixty-five patients (59 female) were recruited with median age of 62.87 years. Forty-four had limited cutaneous SSc, 16 dcSSc, five had scleroderma overlap syndrome. Multivariate stepwise logistic regression indicated that mRSS severity and the presence of contractures were independently (P < 0.05) associated with dcSSc. The strong positive association between S&P and mRSS severity may explain the non-significance of S&P in this analysis. If mRSS severity is not included in the logistic regression analysis, the presence of contractures and S&P (odds ratio = 15.1) show significant (P < 0.01) independent associations with the dcSSc subtype. S&P skin and pruritus were similar in patients with Scl-70 and anti-RNA polymerase antibodies. Anti-centromere antibodies were negatively associated with S&P (χ2 = 7.89, P = 0.005). CONCLUSION: Our study demonstrates strong association of S&P skin with dcSSc (69%), increased risk of pruritus and contractures. Its presence can be used as another clinical tool to diagnose dcSSc in early stages. Observing for S&P skin changes does not require much training.


Subject(s)
Hyperpigmentation/etiology , Hypopigmentation/etiology , Scleroderma, Diffuse/complications , Skin Pigmentation , Adult , Aged , Aged, 80 and over , Chi-Square Distribution , Early Diagnosis , Female , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/physiopathology , Hypopigmentation/diagnosis , Hypopigmentation/physiopathology , Logistic Models , Male , Middle Aged , Multivariate Analysis , Odds Ratio , Predictive Value of Tests , Prognosis , Pruritus/etiology , Scleroderma, Diffuse/diagnosis , Scleroderma, Diffuse/physiopathology , Severity of Illness Index
16.
Aquat Toxicol ; 184: 49-60, 2017 Mar.
Article in English | MEDLINE | ID: mdl-28104549

ABSTRACT

Silver_nanoparticles (AgNPs) have been reported to inhibit specification of erythroid cells and to induce spinal cord deformities and cardiac arrhythmia in vertebrates, but have not been implicated in development of neural crest (NC) and pigment cells in an in vivo model yet. In current study, down-regulated expressions of NC genes pax7 and foxd3, melanophore genes mitfa and dct, and xanthophore gene gch2 in AgNPs-exposed embryos were revealed by microarray, qRT-PCR and whole-mount in situ hybridization (WISH). Then, the down-regulated expressions of melanophore genes mitfa and dct but not xanthophore gene gch2 in AgNPs-exposed embryos were found to be recovered by melanogenesis agonists palmitic acid and dibutyryl cyclic AMP (dbcAMP). Finally, Ag+ chelating and AgNPs coating compound l-cysteine was found to neutralize AgNPs-induced hypopigmentation in AgNPs-exposed embryos, and to recover the down-regulated expressions of both dct and gch2 to nearly normal level in embryos, suggesting that AgNPs-releasing Ag+ might mediate their biological effects on zebrafish pigmentation mostly. This study was firstly to unveil that AgNPs might specifically act up-stream of mitfa and pax7 genes to suppress specification and differentiation of melanophore and xanthophore lineages respectively by their releasing Ag+ during vertebrate embryogenesis.


Subject(s)
Hypopigmentation/chemically induced , Metal Nanoparticles/toxicity , Silver/toxicity , Animals , Embryo, Nonmammalian/drug effects , Embryonic Development/drug effects , Gene Expression Regulation, Developmental/drug effects , Hypopigmentation/physiopathology , In Situ Hybridization , Water Pollutants, Chemical/toxicity , Zebrafish/embryology , Zebrafish Proteins/genetics
17.
J Am Acad Dermatol ; 75(4): 782-787, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27318769

ABSTRACT

BACKGROUND: Tristimulus colorimetry, which uses the Commission Internationale de l'Eclairage L*a*b* model to quantify color, has previously been used to analyze pigmentation and erythema in human skin; however, colorimetry of African American skin is not well characterized. OBJECTIVE: We sought to analyze skin color patterns in African Americans and compare them with those of Caucasians. METHODS: Colorimetry readings of the sun-protected buttock and sun-exposed back of forearm were taken from 40 Caucasian and 43 African American participants from March 2011 through August 2015. African American participants also completed a lifestyle questionnaire. Correlation coefficients, paired t tests, and multivariable linear regression analyses were used for statistical comparisons. RESULTS: Forearm skin was lighter in African Americans ages 65 years and older versus 18 to 30 years (P = .02) but darker in Caucasians ages 65 years or older versus 18 to 30 years (P = .03). In African Americans ages 18 to 30 years, the buttock was darker than the forearm (P < .001), whereas in Caucasians the buttock was lighter than the forearm (P < .001). A lighter forearm than buttock was correlated with supplement use, smoking (ages 18-30 years), and less recreational sun exposure (ages ≥65 years) in African Americans. LIMITATIONS: Our study was limited by the sample size and focal geographic source. CONCLUSIONS: Pigmentation patterns regarding sun-protected and sun-exposed areas in African Americans may differ from that of Caucasians, suggesting that other factors may contribute to skin pigmentation in African Americans.


Subject(s)
Black or African American/statistics & numerical data , Hypopigmentation/physiopathology , Pigmentation/physiology , Skin Aging/physiology , White People/statistics & numerical data , Adult , Age Factors , Aged , Aging/physiology , Cohort Studies , Follow-Up Studies , Humans , Male , Middle Aged , Retrospective Studies , Risk Assessment , Young Adult
18.
Pediatr Dermatol ; 33(3): 307-10, 2016 May.
Article in English | MEDLINE | ID: mdl-26935480

ABSTRACT

BACKGROUND/OBJECTIVES: The association between vitiligo and congenital melanocytic nevi remains incompletely understood. The objective of this study was to investigate the frequency of depigmentation, including vitiligo, in patients with a large congenital melanocytic nevus (LCMN), which is a rare melanocytic tumor variant. METHODS: We retrospectively reviewed the files of 92 patients with an LCMN, including photographic documentation regarding the presence of pigment loss on the nevus mass, around the nevus, around the satellites, and elsewhere on the body. RESULTS: Depigmentation was observed in 8 (8.7%) of 92 patients with an LCMN. Depigmented areas within the main nevus mass were observed in six patients, and adjacent or remote vitiligo was observed in four patients. One patient also demonstrated halo depigmentation around some satellite nevi. CONCLUSION: The coexistence of an LCMN with vitiligo does not appear to be rare and may occur with a spectrum of clinical presentations.


Subject(s)
Nevus, Pigmented/epidemiology , Nevus, Pigmented/pathology , Skin Neoplasms/epidemiology , Skin Neoplasms/pathology , Vitiligo/epidemiology , Vitiligo/pathology , Adolescent , Adult , Age Distribution , Biopsy, Needle , Child , Child, Preschool , Cohort Studies , Comorbidity , Female , Humans , Hypopigmentation/epidemiology , Hypopigmentation/pathology , Hypopigmentation/physiopathology , Immunohistochemistry , Incidence , Infant, Newborn , Male , Melanoma/congenital , Melanoma/epidemiology , Melanoma/pathology , Melanoma/physiopathology , Nevus, Pigmented/congenital , Nevus, Pigmented/physiopathology , Prognosis , Retrospective Studies , Risk Assessment , Sex Distribution , Skin Neoplasms/congenital , Skin Neoplasms/physiopathology , Vitiligo/physiopathology , Young Adult
20.
Handb Clin Neurol ; 132: 281-9, 2015.
Article in English | MEDLINE | ID: mdl-26564088

ABSTRACT

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.


Subject(s)
Hypopigmentation/physiopathology , Brain/pathology , Diagnosis, Differential , Eye Abnormalities/etiology , Female , Humans , Hypopigmentation/diagnosis , Hypopigmentation/epidemiology , Musculoskeletal Abnormalities/etiology , Skin/pathology , Vascular Diseases , Young Adult
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