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).

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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.

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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).

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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.

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Abnormality of limbs
- Clubbing
- Clubbing of fingers
Abnormality of the integument
- Poikiloderma
- Subcutaneous calcification

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary sclerosing poikiloderma

Hereditary poikiloderma
- Hereditary sclerosing poikiloderma

Professional guidelines

PubMed

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

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

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Recent clinical studies

Etiology

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma.

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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Diagnosis

Inherited skin disorders presenting with poikiloderma.

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

Hereditary sclerosing poikiloderma.

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: 22323875 Free PMC Article

Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma.

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

Hereditary sclerosing poikiloderma.

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

Hereditary sclerosing poikiloderma. Report of two families with an unusual and distinctive genodermatosis.

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

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