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Dowling-Degos disease 1(DDD1)

MedGen UID:
1645697
Concept ID:
C4552092
Disease or Syndrome
Synonym: DDD1
 
Gene (location): KRT5 (12q13.13)
 
Monarch Initiative: MONDO:0024534
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 MedlinePlus Genetics
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.

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).

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.

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.  https://medlineplus.gov/genetics/condition/dowling-degos-disease

Clinical features

From HPO
Progressive reticulate hyperpigmentation
MedGen UID:
870426
Concept ID:
C4024872
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Aldana PC, Khachemoune A
Int J Dermatol 2020 May;59(5):543-550. Epub 2019 Nov 14 doi: 10.1111/ijd.14700. PMID: 31724740
Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C
Br J Dermatol 2010 Jun;162(6):1365-9. Epub 2010 Feb 25 doi: 10.1111/j.1365-2133.2010.09657.x. PMID: 20199538

Recent clinical studies

Etiology

Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S
Genes (Basel) 2023 Jun 20;14(6) doi: 10.3390/genes14061300. PMID: 37372478Free PMC Article
Yang A, Cheung K, Kossard S, Murrell DF
Am J Dermatopathol 2020 Jul;42(7):484-490. doi: 10.1097/DAD.0000000000001467. PMID: 31449063
Agut-Busquet E, González-Villanueva I, Romani de Gabriel J, Pascual JC, Ribera Pibernat M, Luelmo J
Acta Derm Venereol 2019 Sep 1;99(10):917-918. doi: 10.2340/00015555-3225. PMID: 31120546
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
Müller CS, Tremezaygues L, Pföhler C, Vogt T
Eur J Dermatol 2012 Sep-Oct;22(5):596-604. doi: 10.1684/ejd.2012.1829. PMID: 23018017

Diagnosis

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Stephan C, Kurban M, Abbas O
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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
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Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768

Therapy

Aldana PC, Khachemoune A
Int J Dermatol 2020 May;59(5):543-550. Epub 2019 Nov 14 doi: 10.1111/ijd.14700. PMID: 31724740
Agut-Busquet E, González-Villanueva I, Romani de Gabriel J, Pascual JC, Ribera Pibernat M, Luelmo J
Acta Derm Venereol 2019 Sep 1;99(10):917-918. doi: 10.2340/00015555-3225. PMID: 31120546
Gasparic J, Theut Riis P, Jemec GB
J Eur Acad Dermatol Venereol 2017 Nov;31(11):1809-1816. Epub 2017 Sep 7 doi: 10.1111/jdv.14464. PMID: 28696038
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Dermatol Online J 2011 Jul 15;17(7):1. PMID: 21810386
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768

Prognosis

Cortez Cardoso Penha R, Cortez de Almeida RF, Câmara Mariz J, Brewer Lisboa L, do Nascimento Barbosa L, Souto da Silva R
Am J Med Genet A 2020 Nov;182(11):2662-2665. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61800. PMID: 33200913
Aldana PC, Khachemoune A
Int J Dermatol 2020 May;59(5):543-550. Epub 2019 Nov 14 doi: 10.1111/ijd.14700. PMID: 31724740
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
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
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

de Oliveira ASLE, de Siqueira RC, Nait-Meddour C, Tricarico PM, Moura R, Agrelli A, d'Adamo AP, Jamain S, Crovella S, de Fátima Medeiros Brito M, Boniotto M, Brandão LAC
Exp Dermatol 2023 Nov;32(11):1935-1945. Epub 2023 Sep 4 doi: 10.1111/exd.14919. PMID: 37665193
Belamarić M, Ljubojević Hadžavdić S
Acta Dermatovenerol Croat 2022 Dec;30(4):261-262. PMID: 36919394
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
Müller CS, Tremezaygues L, Pföhler C, Vogt T
Eur J Dermatol 2012 Sep-Oct;22(5):596-604. doi: 10.1684/ejd.2012.1829. PMID: 23018017
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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