Inherited Hairlessness: A Case Study of Familial Congenital Atrichia.

An uncommon disorder known as atrichia congenita with ectodermal defects (isolated type) can present with the complete absence of hair at birth or can cause the scalp hair to fall out between the ages of one to six months, after that no new hair growth occurs. Patients don't develop pubic and axillary hairs in addition to lacking or having scant brow, eyelash, and body hair. It could develop independently or in tandem with other problems. Isolated congenital alopecia has been reported to occur in both sporadic and familial forms. Although dominant or unevenly dominant inheritance has been found in rare families, the isolated family form often inherits in an autosomal recessive manner. In this case report, we present a rare case of familial congenital atrichia in a 16-year-old girl. There can be a genetic component to her illness because both her mother and father also show some of the clinical features.

Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report.

Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing.

Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report.

Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated with the phenotype of the disease. A consanguineous couple who had a child with the generalized atrichia sign referred to us for genetic counseling. According to the patient's symptoms and after thorough examination and history taking, the HR gene was the candidate gene to be assessed and analyzed. For this purpose targeted primers were designed for all exons of the HR gene followed by running PCR for exons amplification. Finally, the PCR products were sequenced. Whole-gene sequence analysis revealed a nonsense homozygous mutation in exon 6 that, according to the ACMG guide, is a pathogenic variant. Sequence analysis of the exon in parents reveals that they are heterozygout for the non-sense mutation, as well.

Atrichia congenita.

Atrichia congenita is a rare genodermatoses is characterized by a mutation of the human hairless (HR) gene on chromosome 8p22. There is loss of scalp hair between one to six months of age, after which no growth occurs. Eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs. The condition may present in isolation or along with other defects.

Detection of a novel missense mutations in atrichia with papular lesions.

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.

Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

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.

Hairless Gene Mutations in a Sporadic Case of Atrichia with Papular Lesions / 中华皮肤科杂志

Objective To identify the hairless gene mutations in a family of atrichia with papular lesions. Methods Skin biopsies were taken from typical lesions for histopathological examination. Genomic DNA was extracted from blood samples of the family members. Complete encoding sequences of hairless gene Dwere detected by polymerase chain reaction (PCR) and DNA sequencing. Results Compound heterozygous mutations were identified in the patient: G337D in exon 3 and Q498X in exon 4. There was only one of the mutations in his parents and a younger brother. Conclusions G337D and Q498X mutations in hairless gene seem to be responsible for the phenotypes in the patient suffered from atrichia with papular lesions.