Related Experiment Video
Updated: Aug 14, 2025
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Julie Boisen1, Jade Lewis2, Sophia J Hendrick1
1Dermatology, Baylor Scott & White Health, Temple, USA.
Atrichia with papular lesions (APL) is a rare genetic disorder causing complete hair loss and skin papules. Genetic testing confirmed the diagnosis in a 5-year-old girl, highlighting HR gene mutations.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Atrichia with papular lesions (APL) is a rare genetic alopecia.
- Characterized by complete, irreversible hair loss and keratotic papules/cysts.
- Associated with mutations in the hairless gene (HR) on chromosome 8p12.
Observation:
- A 5-year-old girl presented with classic clinical features of APL.
- The patient exhibited diffuse hair loss from birth.
- Presence of diffuse keratotic papules and milia-like cysts was noted.
Findings:
- Genetic testing confirmed the diagnosis of Atrichia with papular lesions.
- The specific HR gene mutation responsible for the disorder was identified.
- This case reinforces the link between HR gene mutations and APL.
Implications:
- Confirms genetic basis of APL in clinical practice.
- Highlights the importance of genetic testing for rare alopecia disorders.
- Contributes to understanding HR gene function in hair follicle development.
More Related Videos
10:27Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
