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제 1형 Trichorhinophalangeal 증후군
김형섭,심우영,허충림 ( Hyoung Seob Kim,Woo Young Sim,Choong Rim Haw ) 대한피부과학회 1997 대한피부과학회지 Vol.35 No.2
Trichorhinophalangeal syndrome(TRPS) was first described in 1966 by Giedion. It is a rare genetic disease and divided into two groups : TRPS type I and TRPS type II. TRPS type I is an autosomal dominant inherited disorder, defined by three characteristic findings : first, sparsely distributed brittle and slow-growing scalp hair, second, a bulbous pear-shaped nose with an elongated philtrum, third brachydactyla with angular deformities. The characteristic radiological features of the hands include cone shaped epiphysis of the proximal interphalangeal joints. Most TRPS type II is sporadic and shows multiple exosteosis, mental retardation and microcephaly in addition to the three chracteristic findings of TRPS type I . A 20-year-old female visited our department for the evaluation of her sparse, slow-growing scalp hair. She also had a bulbous pearshaped nose, ulnar deviated fingers and shortened both hallux. Some relatives of patients show similar symptoms of scalp hair. A Radiologic aly, histopathologic aly and chromosomal study were done, and we established the diagnosis, TRPS type I. (Kor J Dermatol 1997;35(2): 344-349)
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김형섭,허충림,백종현,이무형 대한피부과학회 1998 大韓皮膚科學會誌 Vol.36 No.6
Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis and shows several morphological forms, including the mongolian spot, the blue nevus, the nevus of Ota, the nevus of Ito, and dermal melanocyte hamartoma. A 30-month-old boy had a gray blue patch on the left deltoid region, upper back, sacral area, the entire length of the right arm, and right hand. There was a bluish speckled patch on the right palm. The lesions were present at birth, and no appreciable change in appearance had occurred. He also had blue to brownish pigmentation on the right side of his face with dark bluish pigmentation of the right sclera. His Mental and physical development had been normal. The histopathological examination revealed dendritic dermal melanocytes, mainly in the upper and mid dermis. Clinically and pathologically, the patient was diagnosed as having Ota nevus, Ito nevus, mongolian spot, and dermal melanocyte hamartoma. To our knowledge, dermal melanocytosis with 4 different morphological forms in a patient has not previously been reported. We report this unique case of dermal melanocytosis with various morphological forms.
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