Hypotrichosis with juvenile macular dystrophy: a case report with molecular study / Hipotricose com distrofia macular juvenil: relato de caso com estudo molecular

ABSTRACT Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes. Genetic testing of the CDH3 gene revealed a homozygous gene variant at exon 6 (640A>T). This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.

RESUMO Hipotricose com distrofia macular juvenil (HDMJ) é uma doença autossômica recessiva rara caracterizada por rarefação capilar por alteração nos folículos pilosos e degeneracão progressiva da retina levando a cegueira na segunda e terceira década de vida. Associada a mutações no gene CDH3, resultando em expressão anormal de P-caderina. Mutações no gene CDH3 estão relacionados à displasia ectodérmica, ectrodactilia e distrofia macular. Neste relato descrevemos um menino Iraniano de 11 anos de idade, com ausência da unha na mão esquerda e rarefação capilar desde o nascimento, e que posteriormente apresentou alterações pigmentares maculares. Teste genético do gene CDH3 revelou uma variação homozigótica no exon 6 (640A>T). Essa mutação in-frame troca uma lisina por um codon de parada prematura, alterando a síntese da proteína P-caderina no cromossomo 16q22.

Hereditary hypotrichosis simplex of the scalp: a report of 2 additional families

Hereditary Hypotrichosis Simplex of the Scalp [HHSS] is a relatively rare form of hereditary alopecia. Herein, we report 2 additional families affected with this disorder

Light and scanning electron microscopic examination of late changes in hair with hereditary trichodysplasia [Marie Unna hypotrichosis]

Our aim was to investigate the microscopic surface structural alteration in hair with hereditary trichodysplasia. This article presents the results of light and scanning electron microscopy [SEM] examination of cases having hereditary trichodysplasia. The biopsy specimens were obtained from 2 girls of ages 3 and 5-years, Department of Pediatrics, Faculty of Medicine, Hacettepe University in 2001. A large number of hair specimens were obtained from these 2 cases having hereditary trichodysplasia. Routine light microscopic and SEM procedure was performed on the tissue specimen, and then they were examined by light microscopy and SEM. Hair specimens taken from both patients had great similarities. Our results reveal that the atypical looking hair were flattened, twisted and partly scattered at the end. Moreover, these hairs had sheath structures with abnormal proliferation and these structures were damaged, the cuticles had fractures and were degenerative. There is only a small number of SEM studies in literature reporting the ultrastructural changes of hereditary trichodysplasia. Scanning electron microscopy is a 3 dimensional examination technique revealing easily comparable images and it is indispensable for diagnosis in various tissues which permit considerable magnification. As it is used in the hereditary trichodysplasia syndrome its routine usage in many dermatologic and hair diseases will result in valuable contributions to scientific literature

Hipotricosis tipo Marie-Unna asociada a esclerodactilia: estudio con microanálisis de rayos X / Hypotrichosis type Marie-Unna associated to sclerodactily: study with X-ray microanalysis

Las hipotricosis hereditarias, tanto cicatriciales como no cicatriciales, son infrecuentes, observándose generalmente de forma aislada o familiar en algunos países. La reciente publicación de una familia paquistaní con hipotricosis generalizada, donde se ha encontrado el gen responsable en el cromosoma 8p 12, y su impacto social, motivó que revisáramos las hipotricosis congénitas estudiadas en nuestra Unidad de Tricología. Sólo tuvimos ocasión de diagnosticar, tratar y seguir un caso de hipotricosis tipo Marie Unna en el que se asociaba esclerosis de cuero cabelludo, esclerodactilia y alteraciones ungueales del tipo onicodistrofia y onicólisis. Realizamos estudios tricológicos incluyendo microanálisis de rayos X. Los resultados indicaron que se trataba de una hipotricosiscicatricial tipo Marie Unna, que se asociaba a zonas de esclerosis en cuero cabelludo y manos. Los estudios con microscopio óptico y electrónico de barrido de la distrofia pilosa pueden considerarse típicos. Los picos elevados de azufre y potasio observados en el microanálisis son de difícil interpretación