Tricho-rhino-phalangeal syndrome: a case report

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Author:
LIU Pai(Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042, China)
ZHANG Meng-li(Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042, China)
CHEN Hao(Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042, China)
SUN Jian-fang(Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing 210042, China)
Journal Title:
INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
Issue:
Volume 37, Issue 03, 2011
DOI:
10.3760/cma.j.issn.1673-4173.2011.03.004
Key Word:
Tricho-rhino-phalangeal syndrome;Hair

Abstract: A case of tricho-rhino-phalangeal syndrome is reported. An 18-year-old man presentedwith sparse, slowly-growing scalp hairs, pear-shaped hypertrophic nose, prominent nasolabial fold, thin upperlip, irregular dentition, dystrophic nails, adduction of phalanges of the fifth and fourth toes, shortness of bothbig toes with no functional abnormality. No mental retardation was recognized. Microscopy revealed a gradualthinning at the proximal end of hairs with a decreased diameter. X-ray examination of hands and feetdemonstrated no abnormality in the phalanges of either hand, slight shortness of the first metatarsal bone and phalanges of the big toe, slight elongation of medial cuneiform bone, conical epiphysis on the phalanges of some toes.

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