Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of
stippled epiphyses Stippled epiphyses is a pattern of focal bone calcification.
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
It is seen in chondrodysplasia punctata and in Keutel syndrome. It is also caused by use ...
and skeletal changes.
[Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .][James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .]
Types
*
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected in ...
, ,
*
X-linked recessive chondrodysplasia punctata
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology ...
*
Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant)
* Autosomal dominant chondrodysplasia punctata
See also
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
*
List of radiographic findings associated with cutaneous conditions
References
External links
Genodermatoses
{{Genodermatoses-stub