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Dowling-Degos disease

MedGen UID:
811363
•Concept ID:
C3714534
•
Disease or Syndrome
Synonyms: dark dot disease; 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
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Related genes: POGLUT1, POFUT1, KRT5
 
Monarch Initiative: MONDO:0008371
OMIM®: 179850
Orphanet: ORPHA79145

Definition

A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed. [from ORDO]

Professional guidelines

PubMed

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
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

Inherited Reticulate Pigmentary Disorders.
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
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.
Yang A, Cheung K, Kossard S, Murrell DF
Am J Dermatopathol 2020 Jul;42(7):484-490. doi: 10.1097/DAD.0000000000001467. PMID: 31449063
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.
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
Updated review of genetic reticulate pigmentary disorders.
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
The spectrum of reticulate pigment disorders of the skin revisited.
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

Dowling-Degos disease: a review.
Stephan C, Kurban M, Abbas O
Int J Dermatol 2021 Aug;60(8):944-950. Epub 2020 Dec 23 doi: 10.1111/ijd.15385. PMID: 33368260
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.
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
Dowling-Degos disease involving the vulva and back: case report and review of the literature.
Horner ME, Parkinson KE, Kaye V, Lynch PJ
Dermatol Online J 2011 Jul 15;17(7):1. PMID: 21810386
Dowling-Degos disease.
Georgescu EF, Stănescu L, Popescu CF, Comănescu M, Georgescu I
Rom J Morphol Embryol 2010;51(1):181-5. PMID: 20191141
Reticulate hyperpigmentation.
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

Grover disease: review of subtypes with a focus on management options.
Aldana PC, Khachemoune A
Int J Dermatol 2020 May;59(5):543-550. Epub 2019 Nov 14 doi: 10.1111/ijd.14700. PMID: 31724740
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.
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
Recognizing syndromic hidradenitis suppurativa: a review of the literature.
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
Dowling-Degos disease involving the vulva and back: case report and review of the literature.
Horner ME, Parkinson KE, Kaye V, Lynch PJ
Dermatol Online J 2011 Jul 15;17(7):1. PMID: 21810386
Reticulate hyperpigmentation.
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

The deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling-Degos disease patients with hidradenitis suppurativa.
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
Grover disease: review of subtypes with a focus on management options.
Aldana PC, Khachemoune A
Int J Dermatol 2020 May;59(5):543-550. Epub 2019 Nov 14 doi: 10.1111/ijd.14700. PMID: 31724740
Updated review of genetic reticulate pigmentary disorders.
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
Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2.
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
Hidradenitis suppurativa, Dowling Degos disease and perianal squamous cell carcinoma.
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

A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
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
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
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
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
The spectrum of reticulate pigment disorders of the skin revisited.
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

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