Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

Abstract

Background: Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by papular lesions over the extensor areas of the body. Recently, mutations in the human hairless (HR) gene have been implicated in its pathogenesis. The identification of mutations in the HR gene is important for differentiating between APL and alopecia universalis (AU). Objective: We compared the HR genes of patients with presumed AU who showed minimal or no response to treatment with the HR genes of healthy controls. Methods: The subjects were 11 patients with presumed AU who had not responded to treatments. Fifty healthy people were included as controls for molecular analysis. To screen for mutations, polymerase chain reaction was performed. Results: DNA analysis identified a novel heterozygous G-to-A transition at nucleotide position 191 in exon 5. The mutation was not found in the controls, other AU patients, or any unaffected family members except for the patients' mother and maternal grandfather, who were heterozygous HR gene carriers. Conclusion: Our study identifies a novel missense mutation in exon 5 of the HR gene in a Korean APL patient previously diagnosed as AU.

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

“…Based on current mutations, the correlations between type and location of HR mutations and phenotype are difficult to establish. Hypopigmented streaks have been described in two Arab, two Moroccan, one Australian, one Caucasian and one Korean families [2,19,20,21,22,23,24], which shows that atrichia patients share whitish streaks not particular to Arab origin, first described in 2002 [2]. The hallmark manifestation has occurred in Australoid, Xanthochroic and Mongoloid, which favors the universality of this abnormality.…”

Commonly associated disorders with complete scalp alopecia in early childhood: A review

“…[ 10 ] Both conditions have a similar course and are due to the mutations of the human hairless (HR) gene, located on chromosome 8p21. [ 11 ] A differentiating factor of APL from AUC is the presence of widespread follicular-based papules on the scalp, face, elbows, and upper or lower extremities in the first few years of life. [ 10 ]…”

“…[ 14 ] Prior to genetic characterization, all patients with APL present with similar findings with sporadic cases being frequently misdiagnosed as AU. [ 11 ]…”

Atrichia with papular lesions: a differential diagnosis of alopecia universalis not to be missed

“…A. Ibrahim, 1 F. Buket Basmanav, 2 G. Bohelay, 1 A. L evy, 3 R.C. Betz, 2 F. Caux Dear editor, Japanese butterbur (Petasites japonicus) is a herbaceous plant belonging to the Asteraceae family.…”

“…Pathogenic variants in the hairless gene (HR) have been reported in APL. [2][3][4][5] HR encodes a zinc-finger transcription factor that is highly expressed in brain and skin. The lack of expression of this factor causes disruption of the normal growth cycle of the mature hair follicle resulting in alopecia and development of dermal cysts.…”