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Autosomal recessive hypotrichosis
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Autosomal recessive hypotrichosis

Autosomal recessive hypotrichosis is a condition that affects hair growth, resulting in sparse, fragile, and coarse hair.

Overview

People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. The hair is typically coarse, dry, and tightly curled, often described as woolly hair. It is fragile, easily broken, and rarely grows longer than a few inches. Over time, this may progress to complete scalp hair loss (alopecia) and a decrease in body hair.

Symptoms

While primarily affecting hair, some individuals may experience skin issues in areas with sparse hair, including:

  • Redness (erythema)
  • Itchiness (pruritus)
  • Missing patches of skin (erosions) on the scalp
  • Hyperkeratotic follicular papules (bumps) around hair follicles

Causes

Autosomal recessive hypotrichosis is caused by mutations in the LIPH, LPAR6, or DSG4 genes. These genes provide instructions for proteins involved in the growth, division, and maturation of cells within hair follicles. These processes are essential for the development of hair follicles and the growth of the hair shaft.

Mutations result in abnormal proteins that lead to structurally underdeveloped hair follicles. This alters the structure of the hair shaft, causing it to be fragile and easily broken. The lack of these proteins in the epidermis (the outermost layer of skin) also contributes to the skin problems observed in some individuals.

Inheritance

This condition is inherited in an autosomal recessive pattern. Both copies of the gene in each cell must have mutations for the condition to occur. Parents of an affected individual each carry one copy of the mutated gene but typically do not show symptoms.

Frequently Asked Questions

definitive diagnosis usually involves a physical examination of hair and skin, followed by genetic testing that looks for mutations in the LIPH, LPAR6, or DSG4 genes. A dermatologist may also take a scalp biopsy to examine hair follicle structure under a microscope.
While there is no cure, options include gentle hair care practices such as using mild, sulfate‑free shampoos, avoiding heat styling, and applying lightweight, non‑irritating moisturizers. Some patients benefit from topical minoxidil, though evidence is limited. In severe cases, wigs or hairpieces can provide cosmetic relief.
Parents may notice that a newborn has very fine, sparse, or almost absent hair on the scalp, and the hair that does appear is often very short, dry, and tightly curled. The hair may break easily, and the scalp can look shiny or slightly red. If these features are present, a pediatrician can refer for further evaluation.
Treating redness and itching involves using fragrance‑free, hypoallergenic moisturizers and applying topical corticosteroids only as directed by a dermatologist. Keeping the scalp clean, avoiding harsh chemicals, and protecting the skin from excessive sun exposure can reduce irritation and prevent erosions.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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