Hypotrichosis with juvenile macular dystrophy: a case report with molecular study

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.

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy

“…Abnormal ophthalmic and dermatologic findings of CDH3-related HJMD and EEM syndrome are common in most cases; for example, progressive chorioretinal atrophy in the posterior pole and preserved peripheral retina and hypotrichosis (Hull et al, 2016;Karti et al, 2017;Leibu et al, 2006;Singh et al, 2016;Vicente et al, 2017), which is consistent with our findings (Figure 2). In terms of disease progression, a 9-year follow-up observation of an 18-year-old HJMD patient revealed normal FF-ERG responses, but decreased responses in pattern ERG assessing macular function (Hull et al, 2016).…”

Hypotrichosis with juvenile macular dystrophy

“…HJMDis a genodermatosis reported in approximately 50 cases worldwide and all share mutations in CDH3 on 16q21. [3] CDH3 is also responsible for another autosomal recessive disorder with hypotrichosis and progressive macular dystrophy: EEM. [4] CDH3 encodes P-cadherin, a calcium-dependent cell-cell adhesion molecule, that is strongly expressed in both the hair follicle and the retinal pigment epithelium.…”

Genetic Hair Disorders: A Review

“…A therapeutic window for gene augmentation therapy to preserve visual acuity was suggested. More novel mutations in the CDH3 gene in HJMD have been reported afterwards [25,[28][29][30][35][36][37][38][39][40].…”