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Keratosis palmoplantaris striata 2(SPPK2; PPKS2; KPPS2)

MedGen UID:
343725
Concept ID:
C1852127
Disease or Syndrome
Synonyms: KERATODERMA, PALMOPLANTAR, STRIATE FORM II; Keratosis palmoplantaris striata II; STRIATE PALMOPLANTAR KERATODERMA II
 
Gene (location): DSP (6p24.3)
 
Monarch Initiative: MONDO:0013034
OMIM®: 612908

Definition

PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999). For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (148700). [from OMIM]

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.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Abnormal nail morphology
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormal structure or appearance of the nail.

Recent clinical studies

Etiology

Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C
Genes Genomics 2018 Jul;40(7):789-795. Epub 2018 May 2 doi: 10.1007/s13258-018-0695-z. PMID: 29934816

Diagnosis

Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E
Arch Dermatol 2005 May;141(5):625-8. doi: 10.1001/archderm.141.5.625. PMID: 15897387

Prognosis

Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C
Genes Genomics 2018 Jul;40(7):789-795. Epub 2018 May 2 doi: 10.1007/s13258-018-0695-z. PMID: 29934816

Clinical prediction guides

Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C
Genes Genomics 2018 Jul;40(7):789-795. Epub 2018 May 2 doi: 10.1007/s13258-018-0695-z. PMID: 29934816
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E
Arch Dermatol 2005 May;141(5):625-8. doi: 10.1001/archderm.141.5.625. PMID: 15897387
Tezuka T
Dermatologica 1984;169(3):138-45. PMID: 6207058

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