DOWLING-DEGOS DISEASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: RETICULAR PIGMENT ANOMALY OF FLEXURES
DDD1
DDD
Number of Symptoms 5
OrphanetNr:
OMIM Id: 179850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007456) Progressive reticulate hyperpigmentation 2 / 7739
2
(OMIM) Acantholytic changes (in some patients) 1 / 7739
3
(OMIM) Filiform epithelial downgrowth of epidermal rete ridges 1 / 7739
4
(OMIM) Pitted, perioral acneiform scars 1 / 7739
5
(OMIM) Hyperkeratotic dark-brown papules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Dowling-Degos disease is an autosomal dominant form of reticulate pigmentary disorder. It was first described by Dowling and Freudenthal (1938) and was termed 'dermatose reticulee des plis' (reticulate dermatosis of flexures) by Degos and Ossipowski (1954).

...

Molecular genetics OMIM The region on 12q to which Betz et al. (2006) mapped a locus for DDD includes the keratin gene cluster. Betz et al. (2006) screened the cluster for mutations and identified heterozygosity for loss-of-function mutations in the keratin-5 ...