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Congenital hypertrichosis lanuginosa - Skin
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Congenital hypertrichosis lanuginosa - Skin

Contributors: Chris G. Adigun MD, David Dasher MD, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
Other Resources UpToDate PubMed

Synopsis

Hypertrichosis lanuginosa congenita (HLC) is a rare disorder that manifests at birth with excessive lanugo hair that covers the entire body surface, with the exception of the palms, soles, and mucous membranes. Most of the reported cases have been of autosomal dominant inheritance, although sporadic cases have also been reported.

Affected patients may have an increase in the hypertrichosis during childhood, or it may actually decrease. Regardless of hair changes, the lanugo characteristic of the hair will be retained even after puberty. 

No abnormalities of other organ systems are clearly associated with the condition, but single cases with coinciding pyloric stenosis, precocious teeth, tetralogy of Fallot, growth and developmental delay, and congenital glaucoma have been reported.

For more information, see OMIM.

Codes

ICD10CM:
Q84.2 – Other congenital malformations of hair

SNOMEDCT:
403799003 – Congenital hypertrichosis lanuginosa

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Generalized smooth muscle hamartoma (Michelin tire syndrome, Schaap syndrome, Parme syndrome)

Excessive body hair may be transient in premature infants or, less commonly, term newborns. The hair of HLC is typically as long as 2 inches in length – much longer than transient lanugo overgrowth.

Congenital hypothyroidism

Syndromes associated with hypertrichosis must be considered:
Other possibilities, although the hypertrichosis is circumscribed in these circumstances:
Hair overlying the lumbosacral spine may be a sign of underlying spina bifida or other CNS malformation.

Best Tests

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Therapy

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References

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Last Updated:03/28/2017
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Congenital hypertrichosis lanuginosa - Skin
Congenital hypertrichosis lanuginosa : Hypertrichosis, Present at birth, Widespread distribution
Clinical image of Congenital hypertrichosis lanuginosa
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