Preferred Label : Hamartoma, precalcaneal congenital fibrolipomatous;
CISMeF acronym : PCFH;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : PCFH;
Description : Ortega-Monzo et al. (2000) described 4 cases of precalcaneal congenital fibrolipomatous
hamartoma and identified several other reported cases. All were sporadic. Typically,
one flesh-colored papuloid lesion presented at birth in the midline plantar region
of each heel. The soft bilateral skin lesions were symmetric and measured approximately
0.5 to 1 cm in diameter. The lesions persisted in some cases up to at least 12 years
of age and were not associated with any functional problems. No malformations or other
obvious clinical findings were associated. Histopathologic studies showed mature adipose
tissue enveloped predominantly by collagenous fibrous sheaths. Meyer et al. (2005)
described PCFH in a father and his 2 daughters. Autosomal dominant inheritance was
suggested. *FIELD* RF 1. Meyer, P.; Soennichsen, K.; Buchenau, W.: Autosomal dominant
precalcaneal congenital fibrolipomatous hamartoma. Pediat. Derm. 22: 355-356, 2005.
2. Ortega-Monzo, C.; Molina-Gallardo, I.; Monteagudo-Castro, C.; Carda-Batalla, C.;
Pinazo-Canales, I.; Smith-Ferres, V.; Calduch-Rodriguez, L.; Jorda-Cuevas, E.: Precalcaneal
congenital fibrolipomatous hamartoma: a report of four cases. Pediat. Derm. 17: 429-431,
2000. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 609808;
Origin ID : 609808;
UMLS CUI : C1853298;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
