Congenital hypertrichosis lanuginosa
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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.
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.
Codes
ICD10CM:
Q84.2 – Other congenital malformations of hair
SNOMEDCT:
403799003 – Congenital hypertrichosis lanuginosa
Q84.2 – Other congenital malformations of hair
SNOMEDCT:
403799003 – Congenital hypertrichosis lanuginosa
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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:
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:
- Hurler syndrome
- Cornelia de Lange syndrome
- Rubinstein-Taybi syndrome
- Gingival hyperplasia with hypertrichosis syndrome
- Winchester syndrome
- Recessive dystrophic epidermolysis bullosa
- Fetal hydantoin syndrome
- Erythrohepatic porphyria
- Nevoid hypertrichosis
- Pilar and smooth muscle hamartoma
- Congenital pigmented nevus
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Last Updated:02/03/2022