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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

Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation.
Papadopoulou K, Karsai S, Böer-Auer A
J Dtsch Dermatol Ges 2022 Nov;20(11):1423-1429. Epub 2022 Oct 31 doi: 10.1111/ddg.14897. PMID: 36314591
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
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
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
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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