Hereditary palmoplantar keratoderma, Gamborg-Nielsen type(PPKNR)

MedGen UID:: 344543
•Concept ID:: C1855644
•: Disease or Syndrome

Synonym:	Keratoderma, palmoplantar, Norrbotten recessive type
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009489
OMIM®:	244850
Orphanet:	ORPHA86923

Definition

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive. [from ORDO]

Clinical features

From HPO

Palmoplantar keratoderma

MedGen UID:: 1635750
•Concept ID:: C4551675
•: Disease or Syndrome

Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

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Recurrent cutaneous fungal infections

MedGen UID:: 868980
•Concept ID:: C4023394
•: Finding

Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.

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Papule

MedGen UID:: 507324
•Concept ID:: C0332563
•: Finding

A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.

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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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