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Dowling-degos disease 3(DDD3)

MedGen UID:
816616
•Concept ID:
C3810286
•
Disease or Syndrome
Synonym: DDD3
 
Monarch Initiative: MONDO:0014301
OMIM®: 615674

Definition

Dowling-Degos disease-3 (DDD3) is an autosomal dominant disorder characterized by progressive spotted and reticulate pigmentation of the flexures (summary by Li et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Dowling-Degos disease, see DDD1 (179850). [from OMIM]

Clinical features

From HPO
Palmar pits
MedGen UID:
96101
•Concept ID:
C0423776
•
Finding
See: Feature record | Search on this feature
Reticulated skin pigmentation
MedGen UID:
481205
•Concept ID:
C3279575
•
Finding
See: Feature record | Search on this feature
Hyperpigmented/hypopigmented macules
MedGen UID:
870431
•Concept ID:
C4024877
•
Finding
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Dowling-Degos disease (reticulate pigmented anomaly of the flexures): a clinical and histopathologic study of 6 cases.
Kim YC, Davis MD, Schanbacher CF, Su WP
J Am Acad Dermatol 1999 Mar;40(3):462-7. doi: 10.1016/s0190-9622(99)70498-6. PMID: 10071319
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.
Lestringant GG, Masouyé I, Frossard PM, Adeghate E, Galadari IH
Dermatology 1997;195(4):337-43. doi: 10.1159/000245984. PMID: 9529553

Diagnosis

Dowling-Degos Disease in the Anogenital Region.
Belamarić M, Ljubojević Hadžavdić S
Acta Dermatovenerol Croat 2022 Dec;30(4):261-262. PMID: 36919394
Dowling-Degos Disease Presenting With Associated Epidermal Inclusion Cysts: A Case Report and Review of the Literature.
Marinelli KC, Marinelli LM, Roberts AM, Lincoln MS
Am J Dermatopathol 2022 Mar 1;44(3):e29-e32. doi: 10.1097/DAD.0000000000002103. PMID: 34816802
Dowling-Degos disease: case report and review of the literature.
Batycka-Baran A, Baran W, Hryncewicz-Gwozdz A, Burgdorf W
Dermatology 2010;220(3):254-8. Epub 2010 Mar 20 doi: 10.1159/000278349. PMID: 20332593
Galli-Galli disease: A case report with review of the literature.
Gilchrist H, Jackson S, Morse L, Nicotri T, Nesbitt LT
J Am Acad Dermatol 2008 Feb;58(2):299-302. doi: 10.1016/j.jaad.2007.05.041. PMID: 18222327
Dowling-Degos disease--a heat aggravated variant.
Kossard S, Krivanek J
Australas J Dermatol 2001 Aug;42(3):214-6. doi: 10.1046/j.1440-0960.2001.00521.x. PMID: 11488720

Therapy

Successful treatment of Dowling-Degos disease using intense pulsed light.
Gupta A, Huilgol SC
Australas J Dermatol 2015 Aug;56(3):e63-5. Epub 2014 Dec 13 doi: 10.1111/ajd.12232. PMID: 25495801
Dowling-Degos disease--a heat aggravated variant.
Kossard S, Krivanek J
Australas J Dermatol 2001 Aug;42(3):214-6. doi: 10.1046/j.1440-0960.2001.00521.x. PMID: 11488720

Clinical prediction guides

Dowling-Degos Disease in the Anogenital Region.
Belamarić M, Ljubojević Hadžavdić S
Acta Dermatovenerol Croat 2022 Dec;30(4):261-262. PMID: 36919394
Epidermal keratin 5 expression and distribution is under dermal influence.
Cario M, Pain C, Kaulanjan-Checkmodine P, Masia D, Delia G, Casoli V, Costet P, Goussot JF, Guyonnet-Duperat V, Bibeyran A, Ezzedine K, Reymermier C, Andre-Frei V, Taieb A
Pigment Cell Melanoma Res 2020 May;33(3):435-445. Epub 2019 Nov 26 doi: 10.1111/pcmr.12844. PMID: 31692218
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM, Magin TM, Kruse R
Am J Hum Genet 2006 Mar;78(3):510-9. Epub 2006 Jan 19 doi: 10.1086/500850. PMID: 16465624Free PMC Article
Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation.
Ujihara M, Kamakura T, Ikeda M, Kodama H
Br J Dermatol 2002 Sep;147(3):568-71. doi: 10.1046/j.1365-2133.2002.04819.x. PMID: 12207603
Dowling-Degos disease (reticulate pigmented anomaly of the flexures): a clinical and histopathologic study of 6 cases.
Kim YC, Davis MD, Schanbacher CF, Su WP
J Am Acad Dermatol 1999 Mar;40(3):462-7. doi: 10.1016/s0190-9622(99)70498-6. PMID: 10071319

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