Acromelanosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 39
OMIM Id:
ICD-10: L81.4
UMLs: C0406779
MeSH:
MedDRA:
Snomed: 239089006

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hyperpigmentation of the skin
 -Rare skin disease

Comment:

Up to now, the gene defect underlying acromelanosis albo-punctata is not known. Ultraviolet light does not play an essential role in causing hypo- and hyperpigmentation in this disease, since both, sun-protected and sun-exposed areas are involved. (PMID:22722384)

Symptom Information: Sort by abundance 

1
 (HPO:0000592) Blue sclerae 7364970 IBIS 85 / 7739
2
 (HPO:0000565) Esotropia Frequent [IBIS] 22722384; 14111908 IBIS 58 / 7739
3
 (HPO:0005590) Spotty hypopigmentation Very frequent [IBIS] 22722384 IBIS 10 / 7739
4
 (HPO:0009719) Hypomelanotic macule Very frequent [IBIS] 22722384 IBIS 4 / 7739
5
 (HPO:0000973) Cutis laxa 14111908 IBIS 43 / 7739
6
 (HPO:0000977) Soft skin 14111908 IBIS 23 / 7739
7
 (HPO:0007427) Reticulated skin pigmentation Very frequent [Orphanet] 22722384 IBIS 7 / 7739
8
 (HPO:0003777) Pili torti 14111908 IBIS 24 / 7739
9
 (HPO:0004334) Dermal atrophy 14111908 IBIS 34 / 7739
10
 (HPO:0007449) Confetti-like hypopigmented macules 22722384 IBIS 2 / 7739
11
 (HPO:0002213) Fine hair 14111908 IBIS 77 / 7739
12
 (HPO:0000962) Hyperkeratosis 22722384 IBIS 216 / 7739
13
 (HPO:0007505) Progressive hyperpigmentation 13945920 IBIS 2 / 7739
14
 (HPO:0007440) Generalized hyperpigmentation Very frequent [IBIS] 22722384 IBIS 11 / 7739
15
 (HPO:0001597) Abnormality of the nail 14111908 IBIS 115 / 7739
16
 (MedDRA:10066295) Keratosis pilaris Frequent [IBIS] 22722384 IBIS 11 / 7739
17
 (MedDRA:10072590) Platonychia 14111908 IBIS 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: