Home | Recent Submissions | Search | Diagnosis | Quiz | Submit an Image | Index | Blog |About GSA
  
<< Back to Diagnosis Page  
Image Number 939 (Conradi's disease)

 
Morphology:
Atrophy

Diagnosis: Conradi's disease

Site: Nose

Sex: F

Age: 13

Type: Clinical

Description: Saddle nose

Submitted by: Nameer Al-Sudany

View Full Size

Differential Diagnosis

History:

Conradi-Hünermann-Happle syndrome is an X-linked dominant chondrodysplasia punctata occurs only in girls because it is usually lethal in hemizygous males. The clinical manifestations include an ichthyosiform scaling erythroderma at birth that usually resolves during the first year of life and is replaced by bands of follicular atrophoderma, linear hyperkeratosis, and pigmentary abnormalities. Cataracts, congenital scarring alopecia, saddle-nose deformity, short stature, asymmetric limb reduction defects, and stippled calcifications of the epiphyses on radiographs can be seen. This patient is 13-years-old girl presented for localized congenital scarring alopecia involving the scalp. O/E, there were  pitted scar-like  follicular atrophoderma involving the dorsal surface of the hands and band-like linear atrophoderma on the trunk. Her nose is saddle-shaped and the mother gave history that her daughter had diffuse red scaly rash since birth and disappeared later. 



Search DermNetNZ   eMedicine   PubMed   Dermatology Online   Archives   JAAD for "Conradi's disease"

buy accutane
Home  |  Recent Submissions  |  Search  | Diagnosis  |  Quiz  |  Submit an Image  |  Index  |  About GSA

Copyright © 2005 Global Skin Atlas