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Dowling-Degos disease 1(DDD1)

MedGen UID:
811363
Concept ID:
C3714534
Disease or Syndrome
Synonyms: dark dot disease; DDD1; Dowling-Degos Disease; Dowling-Degos-Kitamura Disease; Reticular Pigment Anomaly of Flexures
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): KRT5 (12q13.13)
OMIM®: 179850

Definition

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). Review of Reticulate Pigment Disorders Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. Genetic Heterogeneity of Reticulate Pigment Disorders Dowling-Degos disease-2 (DDD2; 615327) is caused by mutation in the POFUT1 gene (607491) on chromosome 20q11. Dowling-Degos disease-3 (DDD3; 615674) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4; 615696) is caused by mutation in the POGLUT1 gene (615618) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH; 127400), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (146920) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK; 615537) is caused by mutation in the ADAM10 gene (602192) on chromosome 15q21. [from OMIM]

Additional description

From GHR
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 and back of the knee. Less commonly, pigmentation changes can also occur on the wrist, back of the hand, face, scalp, scrotum (in males), and vulva (in females). These areas of hyperpigmentation do not darken with exposure to sunlight and cause no health problems.Individuals with Dowling-Degos disease may also have dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or depressed or pitted scars on the face similar to acne scars but with no history of acne. Cysts 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).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 caused by Dowling-Degos disease can be bothersome, they typically cause no health problems.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. These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.  https://ghr.nlm.nih.gov/condition/dowling-degos-disease

Clinical features

Progressive reticulate hyperpigmentation
MedGen UID:
425904
Concept ID:
CN006535
Finding

Recent clinical studies

Etiology

Chen M, Li Y, Liu H, Fu X, Yu Y, Yu G, Wang C, Bao F, Liany H, Wang Z, Shi Z, Zhang D, Zhou G, Liu J, Zhang F
PLoS One 2014;9(8):e104496. Epub 2014 Aug 26 doi: 10.1371/journal.pone.0104496. PMID: 25157627Free PMC Article
Lee SJ, Lee HJ, Kim DW, Jun JB, Chung SL, Bae HI
J Dermatol 2000 Sep;27(9):591-7. PMID: 11052235
Kim YC, Davis MD, Schanbacher CF, Su WP
J Am Acad Dermatol 1999 Mar;40(3):462-7. PMID: 10071319
Lestringant GG, Masouyé I, Frossard PM, Adeghate E, Galadari IH
Dermatology 1997;195(4):337-43. PMID: 9529553
Li M, Hunt MJ, Commens CA
Australas J Dermatol 1997 Nov;38(4):209-11. PMID: 9431718

Diagnosis

Singh S, Khandpur S, Verma P, Singh M
Indian J Dermatol Venereol Leprol 2013 Nov-Dec;79(6):802-4. doi: 10.4103/0378-6323.120734. PMID: 24177614
Yun JH, Kim JH, Choi JS, Roh JY, Lee JR
J Cosmet Laser Ther 2013 Dec;15(6):336-9. Epub 2013 Mar 6 doi: 10.3109/14764172.2013.764437. PMID: 23464495
Horner ME, Parkinson KE, Kaye V, Lynch PJ
Dermatol Online J 2011 Jul 15;17(7):1. PMID: 21810386
Hanneken S, Rütten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Nöthen MM, Kruse R, Betz RC
Br J Dermatol 2010 Jul;163(1):197-200. Epub 2010 Mar 5 doi: 10.1111/j.1365-2133.2010.09741.x. PMID: 20222933
Georgescu EF, Stănescu L, Popescu CF, Comănescu M, Georgescu I
Rom J Morphol Embryol 2010;51(1):181-5. PMID: 20191141

Therapy

Gupta A, Huilgol SC
Australas J Dermatol 2015 Aug;56(3):e63-5. Epub 2014 Dec 13 doi: 10.1111/ajd.12232. PMID: 25495801
Yun JH, Kim JH, Choi JS, Roh JY, Lee JR
J Cosmet Laser Ther 2013 Dec;15(6):336-9. Epub 2013 Mar 6 doi: 10.3109/14764172.2013.764437. PMID: 23464495
Horner ME, Parkinson KE, Kaye V, Lynch PJ
Dermatol Online J 2011 Jul 15;17(7):1. PMID: 21810386
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
Kossard S, Krivanek J
Australas J Dermatol 2001 Aug;42(3):214-6. PMID: 11488720

Prognosis

Ramkumar N, Harvey BM, Lee JD, Alcorn HL, Silva-Gagliardi NF, McGlade CJ, Bestor TH, Wijnholds J, Haltiwanger RS, Anderson KV
PLoS Genet 2015 Oct;11(10):e1005551. Epub 2015 Oct 23 doi: 10.1371/journal.pgen.1005551. PMID: 26496195Free PMC Article
Müller CS, Pföhler C, Tilgen W
J Cutan Pathol 2009 Jan;36(1):44-8. Epub 2008 Jun 17 doi: 10.1111/j.1600-0560.2008.00995.x. PMID: 18564280
Li M, Hunt MJ, Commens CA
Australas J Dermatol 1997 Nov;38(4):209-11. PMID: 9431718

Clinical prediction guides

Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z
Am J Hum Genet 2013 Jun 6;92(6):895-903. Epub 2013 May 16 doi: 10.1016/j.ajhg.2013.04.022. PMID: 23684010Free PMC Article
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
Ujihara M, Kamakura T, Ikeda M, Kodama H
Br J Dermatol 2002 Sep;147(3):568-71. PMID: 12207603
Kim YC, Davis MD, Schanbacher CF, Su WP
J Am Acad Dermatol 1999 Mar;40(3):462-7. PMID: 10071319
Lestringant GG, Masouyé I, Frossard PM, Adeghate E, Galadari IH
Dermatology 1997;195(4):337-43. PMID: 9529553

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