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Pachyonychia Congenita

More information in Books or onNLM PubMed
Definition: A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.     
See Also Keratin-17; Nails, Malformed 		Other names Steatocystoma Multiplices; Pachyonychia Congenita, Jadassohn Lewandowsky Type; Pachyonychia Congenita, Jackson Lawler Type; Multiplices, Steatocystoma; Multiplex, Steatocystoma; Jadassohn Lewandowsky Syndrome; Jackson Lawler Type Pachyonychia Congenita; Congenita, Pachyonychia; Type 2 Pachyonychia Congenita; Type 1 Pachyonychia Congenita; Pachyonychia Congenita, Jadassohn-Lewandowsky Type; Pachyonychia Congenita, Jackson-Lawler Type; Pachyonychia Congenita Tarda, Type 1; Jadassohn-Lewandowsky Syndrome; Jackson-Lawler Type Pachyonychia Congenita; Steatocystoma Multiplex; Pachyonychia Congenita, Type 2; Pachyonychia Congenita, Type 1; Pachyonychia Congenita Type 1
 
SubstanceCAS Registry & nameCategoriesSource
Multiple sebaceous cysts  0   *Pachyonychia Congenita.
Pachyonychia congenita recessive  0   *Pachyonychia Congenita.
Pachyonychia congenita Jackson Lawler type  0   *Pachyonychia Congenita.
Gorlin Bushkell Jensen syndrome  0   *Kidney Calculi *Nails, Malformed *Pachyonychia Congenita. Birth Defects Orig Artic Ser. 1975; 11(5):19-21

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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