Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH, OMIM 602400). Mouse models with matriptase deficiency indicate an involvement of matriptase in suprabasal keratinocytes in the maintenance of the epidermal barrier. In contrast...

Purpose CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal-recessive entity characterized by congenital sparse scalp hair and macular dystrophy, leading to severe central visual loss. We report a family with HJMD caused by a novel CDH3 gene mutation and review the mutation spectrum in HJMD. A detailed phenotypic assessment for patients whose molecular results were...

Autosomal recessive hypotrichosis is a rare genetic irreversible hair loss disorder characterized by sparse scalp hair, sparse to absent eyebrows and eyelashes, and sparse axillary and body hair. The study, presented here, established genetic linkage in four families showing similar phenotypes to lysophosphatidic acid receptor 6 (LPAR6) gene on chromosome 13q14.11-q21.32. Subsequently, sequence...

objective(s): genetic analysis of two consanguineous pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. materials and methods: genomic dna extraction had been done from peripheral blood samples. extracted dna was then subjected to pcr (polymerase chain reaction) for amplification. linkage analysis was perf...

A 22-year-old woman presented to our Department complaining of linear hypopigmented lesions on the trunk and extremities as well as mild patchy hypotrichosis on the occipital area since infancy. Her medical history was significant for congenital dental abnormalities (hypodontiawith conical-shaped teeth) thathadbeen treated with orthodontic management and dental implants (Fig. 1). No consanguini...

BACKGROUND Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to O...

OBJECTIVES Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. MATERIALS AND METHODS Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perfor...

Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.3. We investigated a consanguineous Pakistani family with AR PHNED linked to the ...

Woolly hair is an uncommon congenital anomaly of the scalp presenting with strongly coiled involving a localized area or covering entire side and occurring in non-black people. Among syndromes woolly hair, most known are Naxos syndrome, Carvajal-Huerta hair/hypotrichosis, ectodermal dysplasia-skin fragility tricho-hepato-enteric syndrome. Case characteristics: herein, we report case autosomal r...

VCAM-1 (vascular cell adhesion molecule-1) and Sox18 are involved in vascular development. VCAM-1 is an important adhesion molecule that is expressed on endothelial cells and has a critical role in endothelial activation, inflammation, lymphatic pathophysiology, and atherogenesis. The Sry-related high mobility group box factor Sox18 has previously been implicated in endothelial pathologies. Mut...