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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.
 
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

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

Cohen PR, Cohen-Kurzrock RA, Riahi RR
Clin Dermatol 2024 Nov-Dec;42(6):585-601. Epub 2024 Sep 10 doi: 10.1016/j.clindermatol.2024.09.014. PMID: 39260459
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

Diagnosis

Kumar S, Hausen J, Sivalingam S, Humbatova A, Buness A, Frank J, Ralser DJ, Betz RC
Br J Dermatol 2023 Nov 16;189(6):772-774. doi: 10.1093/bjd/ljad306. PMID: 37625796
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
Piccolo V, Corneli P, Russo T, Danielsson M, Zalaudek I, Argenziano G
Ital J Dermatol Venerol 2021 Dec;156(Suppl. 1 to No. 6):71-72. Epub 2019 Jun 12 doi: 10.23736/S2784-8671.19.06386-7. PMID: 31195785
McSweeney SM, Woolf RT, Calonje E, Lewis F
Clin Exp Dermatol 2020 Mar;45(2):232-234. Epub 2019 May 3 doi: 10.1111/ced.13982. PMID: 31054170
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

Therapy

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
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
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768
Kikuchi I, Crovato F, Rebora A
Int J Dermatol 1988 Mar;27(2):96-7. doi: 10.1111/j.1365-4362.1988.tb01279.x. PMID: 2966131

Prognosis

Cohen PR, Cohen-Kurzrock RA, Riahi RR
Clin Dermatol 2024 Nov-Dec;42(6):585-601. Epub 2024 Sep 10 doi: 10.1016/j.clindermatol.2024.09.014. PMID: 39260459
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
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
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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