Acrokerato-elastoidosis(PPKP3)

MedGen UID:: 107467
•Concept ID:: C0545044
•: Disease or Syndrome

Synonyms:	Acrokeratoelastoidosis of Costa; Collagenous plaques of hand and feet; COLLAGENOUS PLAQUES OF HANDS AND FEET; Palmoplantar keratoderma, punctate type 3; PALMOPLANTAR KERATODERMA, PUNCTATE TYPE III; PPKP3
SNOMED CT:	Acrokerato-elastoidosis (111029001)
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. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0007047
OMIM®:	101850
Orphanet:	ORPHA38

Definition

A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight. [from SNOMEDCT_US]

Clinical features

From HPO

Acrokeratosis

MedGen UID:: 450988
•Concept ID:: C0001202
•: Disease or Syndrome

Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.

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Hyperkeratosis

MedGen UID:: 209030
•Concept ID:: C0870082
•: Disease or Syndrome

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

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