Literature record
Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.
PMID 40457931 | PMCID PMC13055154 | DOI 10.4081/dr.2025.10177 · Dermatology reports · 2026 · View on PubMed ↗
Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a hereditary hair disorder characterized by sparse, short, and curly hair. Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition. We report a case of an 11-month-old Saudi boy who presented to our dermatology clinic at King Fahad University Hospital in Al-Khobar (Saudi Arabia) with short, non-growing hair since birth. DNA sequencing revealed a homozygous mutation in the LIPH gene at c.280_369dup. Our patient was diagnosed with ARWH/H resulting from a homozygous mutation in LIPH.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LIPH | “Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.” | 0.98 | hgnc_dict_v1 |
| gene | LPAR6 | “Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We report a case of an 11-month-old Saudi boy who presented to our dermatology clinic at King Fahad University Hospital in Al-Khobar (Saudi Arabia) with short, non-growing hair since birth.” | 0.95 | saudi_context_rules_v1 |
| variant | c.280_369dup | “DNA sequencing revealed a homozygous mutation in the LIPH gene at c.280_369dup.” | 0.95 | hgvs_regex_v1 |