Punctate palmoplantar keratoderma type 2(PPKP2)

MedGen UID:: 356886
•Concept ID:: C1867982
•: Disease or Syndrome

Synonyms:	PALMOPLANTAR KERATODERMA, PUNCTATE TYPE II; PPKP2
SNOMED CT:	Punctate palmoplantar keratoderma type 2 (765096001)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008292
OMIM®:	175860
Orphanet:	ORPHA79502

Definition

A type of isolated punctate hereditary palmoplantar keratoderma with characteristics of multiple asymptomatic 1 to 2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically compact columnar parakeratosis over hypo or agranular epidermis is observed. [from SNOMEDCT_US]

Clinical features

From HPO

Spinous keratoses of palms and soles

MedGen UID:: 870385
•Concept ID:: C4024830
•: Disease or Syndrome

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Porokeratosis

MedGen UID:: 56518
•Concept ID:: C0162839
•: Congenital Abnormality

A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.

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