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Dowling-Degos disease 4(DDD4)

MedGen UID:
816643
Concept ID:
C3810313
Disease or Syndrome
Synonyms: DDD4; DOWLING-DEGOS DISEASE 4
 
Gene (location): POGLUT1 (3q13.33)
 
Monarch Initiative: MONDO:0014307
OMIM®: 615696

Definition

Dowling-Degos disease-4 (DDD4) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. Age of onset varies between the second and sixth decade of life (summary by Basmanav et al., 2014). For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850. [from OMIM]

Additional description

From MedlinePlus Genetics
The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes associated with Dowling-Degos disease may cause distress or anxiety, they typically cause no other health problems.

In rare cases, individuals with Dowling-Degos disease experience itching (pruritus) or burning sensations on the skin. These feelings can be triggered by UV light, sweating, or friction on the skin.

Individuals with Dowling-Degos disease may also have dark spots (lesions) on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or pitted scars on the face similar to acne scars but with no history of acne. Fluid-filled sacs within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented).

A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness and lead to reddened or missing patches of skin (erosions). These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.

Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.  https://medlineplus.gov/genetics/condition/dowling-degos-disease

Clinical features

From HPO
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
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).
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.
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
Lestringant GG, Masouyé I, Frossard PM, Adeghate E, Galadari IH
Dermatology 1997;195(4):337-43. doi: 10.1159/000245984. PMID: 9529553
Li M, Hunt MJ, Commens CA
Australas J Dermatol 1997 Nov;38(4):209-11. doi: 10.1111/j.1440-0960.1997.tb01700.x. PMID: 9431718

Diagnosis

Belamarić M, Ljubojević Hadžavdić S
Acta Dermatovenerol Croat 2022 Dec;30(4):261-262. PMID: 36919394
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
Strausburg M, Linos K, Staser K, Mousdicas N
Clin Exp Dermatol 2016 Jun;41(4):410-2. Epub 2015 Dec 18 doi: 10.1111/ced.12790. PMID: 26685052
Bhagwat PV, Tophakhane RS, Shashikumar BM, Noronha TM, Naidu V
Indian J Dermatol Venereol Leprol 2009 Jul-Aug;75(4):398-400. doi: 10.4103/0378-6323.53139. PMID: 19584468
Li M, Hunt MJ, Commens CA
Australas J Dermatol 1997 Nov;38(4):209-11. doi: 10.1111/j.1440-0960.1997.tb01700.x. PMID: 9431718

Therapy

Seitz AT, Sterz H, Strehlow V, Nagel S, Dumann K, Grunewald S, Simon JC, Kunz M
Lasers Surg Med 2019 Apr;51(4):321-324. Epub 2018 Oct 3 doi: 10.1002/lsm.23021. PMID: 30281812
Bhagwat PV, Tophakhane RS, Shashikumar BM, Noronha TM, Naidu V
Indian J Dermatol Venereol Leprol 2009 Jul-Aug;75(4):398-400. doi: 10.4103/0378-6323.53139. PMID: 19584468

Prognosis

Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
Li M, Hunt MJ, Commens CA
Australas J Dermatol 1997 Nov;38(4):209-11. doi: 10.1111/j.1440-0960.1997.tb01700.x. PMID: 9431718

Clinical prediction guides

Belamarić M, Ljubojević Hadžavdić S
Acta Dermatovenerol Croat 2022 Dec;30(4):261-262. PMID: 36919394
Seitz AT, Sterz H, Strehlow V, Nagel S, Dumann K, Grunewald S, Simon JC, Kunz M
Lasers Surg Med 2019 Apr;51(4):321-324. Epub 2018 Oct 3 doi: 10.1002/lsm.23021. PMID: 30281812
Paolino G, Donati M, Didona D, Panetta C, Donati P
Acta Dermatovenerol Croat 2017 Dec;25(4):300-302. PMID: 30064605
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
Lestringant GG, Masouyé I, Frossard PM, Adeghate E, Galadari IH
Dermatology 1997;195(4):337-43. doi: 10.1159/000245984. PMID: 9529553

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