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Hereditary sclerosing poikiloderma

MedGen UID:
91006
Concept ID:
C0343094
Congenital Abnormality
Synonym: Hereditary sclerosing poikiloderma, Weary type
SNOMED CT: Weary-Kindler syndrome (238834002); Hereditary sclerosing poikiloderma (238834002)
 
Monarch Initiative: MONDO:0008261
OMIM®: 173700
Orphanet: ORPHA221039

Definition

A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported. [from ORDO]

Clinical features

From HPO
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Subcutaneous calcification
MedGen UID:
120484
Concept ID:
C0263625
Disease or Syndrome
Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
Poikiloderma
MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary sclerosing poikiloderma

Professional guidelines

PubMed

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C
Clin Genet 2015 Mar;87(3):244-51. Epub 2014 Mar 26 doi: 10.1111/cge.12361. PMID: 24635570

Recent clinical studies

Etiology

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C
Clin Genet 2015 Mar;87(3):244-51. Epub 2014 Mar 26 doi: 10.1111/cge.12361. PMID: 24635570
Fryburg JS, Sidhu-Malik N
J Am Acad Dermatol 1995 Nov;33(5 Pt 2):900-2. doi: 10.1016/0190-9622(95)90432-8. PMID: 7593806

Diagnosis

Rayinda T, van Steensel M, Danarti R
Int J Dermatol 2021 Nov;60(11):1343-1353. Epub 2021 Mar 19 doi: 10.1111/ijd.15498. PMID: 33739439
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C
Clin Genet 2015 Mar;87(3):244-51. Epub 2014 Mar 26 doi: 10.1111/cge.12361. PMID: 24635570
Lee HJ, Shin DH, Choi JS, Kim KH
J Korean Med Sci 2012 Feb;27(2):225-7. Epub 2012 Jan 27 doi: 10.3346/jkms.2012.27.2.225. PMID: 22323875Free PMC Article
Greer KE, Weary PE, Nagy R, Robinow M
Int J Dermatol 1978 May;17(4):316-22. doi: 10.1111/j.1365-4362.1978.tb06085.x. PMID: 659034
Weary PE, Hsu YT, Richardson DR, Caravati CM, Wood BT
Arch Dermatol 1969 Oct;100(4):413-22. doi: 10.1001/archderm.100.4.413. PMID: 5358102

Prognosis

Rayinda T, van Steensel M, Danarti R
Int J Dermatol 2021 Nov;60(11):1343-1353. Epub 2021 Mar 19 doi: 10.1111/ijd.15498. PMID: 33739439
Fryburg JS, Sidhu-Malik N
J Am Acad Dermatol 1995 Nov;33(5 Pt 2):900-2. doi: 10.1016/0190-9622(95)90432-8. PMID: 7593806

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