Dowling-Degos disease
Synonyms: Reticular pigment anomaly of flexures
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dowling-Degos disease | Reticular pigment anomaly of flexures |
| fr | Maladie de Dowling-Degos | Dermatose réticulée des plis |
| de | Dowling-Degos-Krankheit | Retikuläre Pigmentdermatose der Intertrigines |
| es | Enfermedad de Dowling-Degos | Pigmentación reticular anómala en las flexuras · Pigmentación reticular anómala en los pliegues de flexión |
| it | Malattia di Dowling-Degos | Disturbo reticolare della pigmentazione delle pieghe di flessione |
| nl | Ziekte van Dowling-Degos | Reticulaire pigmentanomalie van flexuren |
| pt | Doença de Dowling-Degos | Acropigmentação reticulada de Kitamura · Anomalia pigmentar reticular das regiões de flexão · Doença de Dowling-Degos-Kitamura |
| pl | Choroba Dowlinga i Degosa | Siateczkowata barwnikowa anomalia powierzchni zgięciowych |
| cs | Dowlingova-Degosova nemoc | Retikulární pigmentové anomálie flexorů · Dowling-Degosova nemoc |
| uk | Хвороба Даулінга-Дегоса | Ретикулярна пігментна аномалія згиначів |
| zh | Dowling-Degos病 | 屈侧网状色素异常 |
| tr | Dowling-Degos hastalığı | Fleksuraların retiküler pigment anomalisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179850 | E | validated | |
| OMIM | 615327 | BTNT | validated | |
| OMIM | 615674 | BTNT | validated | |
| OMIM | 615696 | BTNT | validated | |
| ICD-10 | L81.8 | NTBT | attributed | validated |
| ICD-11 | EC23.0 | NTBT | index | validated |
| MONDO | 0008371 | E | validated | |
| MeSH | C562924 | E | validated | |
| UMLS | C3714534 | E | validated | |
| GARD | 9775 | E | validated | |
| MedDRA | 10068651 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309505Disorder of fucoglycosan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6442 | ENSG00000186081 | 148040 | 12q13.13 | keratin 5 | 16465624[PMID] |
| POFUT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14988 | ENSG00000101346 | 607491 | 20q11.21 | protein O-fucosyltransferase 1 | 23684010[PMID] |
| POGLUT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:22954 | ENSG00000163389 | 615618 | 3q13.33 | protein O-glucosyltransferase 1 | 24387993[PMID] |
| PSENEN | Disease-causing germline mutation(s) in | Assessed | HGNC:30100 | ENSG00000205155 | 607632 | 19q13.12 | presenilin enhancer, gamma-secretase subunit | 28287404[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
25 annotations · validated 2021-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007456 | Progressive reticulate hyperpigmentation | |
| Frequent (79-30%) | ||
| HP:0000464 | Abnormality of the neck | |
| HP:0000962 | Hyperkeratosis | |
| HP:0030052 | Inguinal freckling | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0040154 | Acne inversa | |
| HP:0031293 | Digital pitting scar | |
| HP:0030350 | Erythematous papule | |
| HP:0002046 | Heat intolerance | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0025473 | Hyperpigmented papule | |
| HP:0031447 | Penile freckling | |
| HP:0000989 | Pruritus | |
| HP:0012855 | Scrotal hyperpigmentation | |
| Very rare (<4-1%) | ||
| HP:0030442 | Anal margin squamous cell carcinoma | |
| HP:0001369 | Arthritis | |
| HP:0200040 | Epidermoid cyst | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0020073 | Hypopigmented macule | |
| HP:0031525 | Keratoacanthoma | |
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin | |
| HP:0010610 | Palmar pits | |
| HP:0200037 | Skin vesicle | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30285365[PMID]_33368260[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79145
- This record as JSON: /data/d/79145.json