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Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
Author(s) -
Wang JiaMan,
Xiao YuJuan,
Liang YanHua
Publication year - 2015
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.12889
Subject(s) - hypotrichosis , outer root sheath , hair follicle , scalp , hair disease , medicine , pathology , anatomy , hair shaft , keratin , dermatology , biology , immunohistochemistry , genetics , gene , endocrinology
Background Localized autosomal recessive hypotrichosis ( LAH ) is an inherited rare disease caused by DSG 4 mutations, characterized by short, sparse, brittle hair affecting restricted areas such as the scalp, trunk, and extremities. To date, DSG 4 mutations have been reported in 14 pedigrees of LAH overlapping with monilethrix. Methods To clarify the etiology of hair defects for a 2‐year‐old Chinese girl, peripheral blood, skin, and hair samples were collected, and skin immunohistochemistry, electron microscopy (scanning and transmission types), Vivascope confocal microscopy, and DSG 4 sequencing were investigated. Results The patient presented sparse hairs of various length and follicular hyperkeratotic papules. Eyebrows and lashes were also involved (broke or shed). The biopsy specimen revealed curled ingrown hair shafts within the hair follicle and keratin‐filled hair follicles. Scanning electron microscopy revealed hair cuticle loosely and irregularly arranged, as well as a marked warping, curling, cracking, and detachment of hair cuticle. Transmission electron microscopy indicated notable dysadhesion between cells of the outer root sheath. A homozygous mutation A1103G in exon 8 of DSG 4 was identified in the patient, resulting in the substitution of an aspartic acid by glycine (D323G) and reduced DSG 4 expression in the affected scalp epidermis. Conclusions The homozygous A1103G mutation in DSG 4 was responsible for the disease development.