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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).
 
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.
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.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary palmoplantar keratoderma, Gamborg-Nielsen type
Follow this link to review classifications for Hereditary palmoplantar keratoderma, Gamborg-Nielsen type in Orphanet.

Recent clinical studies

Etiology

Kastl I, Anton-Lamprecht I, Gamborg Nielsen P
Arch Dermatol Res 1990;282(6):363-70. doi: 10.1007/BF00372085. PMID: 2260881

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