Abstract
The oral-facial-digital syndrome type I is a rare, inherited, polymalformation disorder affecting the female sex. As suggested by its name, the main alterations of the syndrome affect the oral mucosa, the face, the fingers of the hands and the toes. The characteristic skin manifestations, when present, are a clue to the diagnosis. They consist of congenital hypotrichosis and multiple milia. The latter affect the face and head and regress with pinhead atrophic residua. A paradigmatic family case of oral-facial-digital syndrome type I, whose skin manifestations led to the right diagnosis is here reported.
| Original language | English |
|---|---|
| Pages (from-to) | 145-148 |
| Number of pages | 4 |
| Journal | European Journal of Pediatric Dermatology |
| Volume | 5 |
| Issue number | 3 |
| Publication status | Published - 1995 |
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Keywords
- brachydactylia
- congenital hypotrichosis
- milium
- oral alterations
ASJC Scopus subject areas
- Dermatology
- Pediatrics, Perinatology, and Child Health
Cite this
Oral-facial-digital syndrome type I. Importance of the skin manifestations. / Cambiaghi, S.; Pistritto, G.; Cavalli, R.; Dellepiane, R. M.; Mastrangelo, M.
In: European Journal of Pediatric Dermatology, Vol. 5, No. 3, 1995, p. 145-148.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Oral-facial-digital syndrome type I. Importance of the skin manifestations
AU - Cambiaghi, S.
AU - Pistritto, G.
AU - Cavalli, R.
AU - Dellepiane, R. M.
AU - Mastrangelo, M.
PY - 1995
Y1 - 1995
N2 - The oral-facial-digital syndrome type I is a rare, inherited, polymalformation disorder affecting the female sex. As suggested by its name, the main alterations of the syndrome affect the oral mucosa, the face, the fingers of the hands and the toes. The characteristic skin manifestations, when present, are a clue to the diagnosis. They consist of congenital hypotrichosis and multiple milia. The latter affect the face and head and regress with pinhead atrophic residua. A paradigmatic family case of oral-facial-digital syndrome type I, whose skin manifestations led to the right diagnosis is here reported.
AB - The oral-facial-digital syndrome type I is a rare, inherited, polymalformation disorder affecting the female sex. As suggested by its name, the main alterations of the syndrome affect the oral mucosa, the face, the fingers of the hands and the toes. The characteristic skin manifestations, when present, are a clue to the diagnosis. They consist of congenital hypotrichosis and multiple milia. The latter affect the face and head and regress with pinhead atrophic residua. A paradigmatic family case of oral-facial-digital syndrome type I, whose skin manifestations led to the right diagnosis is here reported.
KW - brachydactylia
KW - congenital hypotrichosis
KW - milium
KW - oral alterations
UR - http://www.scopus.com/inward/record.url?scp=0029556651&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029556651&partnerID=8YFLogxK
M3 - Article
VL - 5
SP - 145
EP - 148
JO - European Journal of Pediatric Dermatology
JF - European Journal of Pediatric Dermatology
SN - 1122-7672
IS - 3
ER -