Congenital Hypertrichosis Lanuginosa Differential Diagnoses

Updated: Aug 28, 2018
  • Author: Dirk M Elston, MD; Chief Editor: William D James, MD  more...
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DDx

Diagnostic Considerations

Also consider the following:

  • Normal variant hypertrichosis (ie, increased total body hair)
  • Maternal alcohol abuse during pregnancy
  • Systemic illness
  • Hypothyroidism
  • Anorexia nervosa
  • Porphyria
  • Malnutrition
  • Mucopolysaccharidoses
  • GM1 gangliosidosis
  • Drug effects - Corticosteroids, phenytoin (Dilantin), streptomycin, hexachlorobenzene, penicillamine, cyclosporine, diazoxide, minoxidil, heavy metals, sodium tetradecyl sulfate, acetazolamide, interferon

Syndromes to consider include the following [18, 43, 44] :

  • Oliver-McFarlane syndrome
  • Coffin-Siris syndrome
  • Seckel syndrome
  • Cerebro-oculofacioskeletal syndrome
  • Schinzel-Giedion syndrome (with midface retraction)
  • Barber-Say syndrome
  • Hajdu-Cheney syndrome
  • Weyers acrofacial-dysostosis syndrome
  • Osteochondrodysplasia with hypertrichosis
  • Gingival fibromatosis with hypertrichosis
  • Amaurosis congenita (cone-rod type) with hypertrichosis
  • Paterson syndrome (pseudoleprechaunism)
  • Seip syndrome
  • Partial trisomy 3q syndrome

Differential Diagnoses