Reticulate acropigmentation of Kitamura

General Information (adopted from Orphanet):

Synonyms, Signs: ACROPIGMENTATIO RETICULARIS
RETICULATE PIGMENTATION OF KITAMURA
KITAMURA RETICULATE ACROPIGMENTATION
RAPK
RAK
RPK
Number of Symptoms 11
OrphanetNr: 178307
OMIM Id: 615537
ICD-10: L81.8
UMLs: C0406811
MeSH:
MedDRA:
Snomed: 239133004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (OMIM) Plantar keratoderma (in some patients) 1 / 7739
2
 (OMIM) Elongation and thinning of rete ridges 1 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
 (OMIM) Pigmentation in tip of rete ridges 1 / 7739
5
 (OMIM) Alopecia, partial 4 / 7739
6
 (OMIM) Few inflammatory cell infiltrates 1 / 7739
7
 (OMIM) Reticulate hyperpigmented macules which darken over time and appear initially on dorsa of hands and feet but progress to flexor aspects of proximal extremities 1 / 7739
8
 (OMIM) Palmoplantar pits 1 / 7739
9
 (OMIM) Breaks in epidermal ridges of palms and fingers 1 / 7739
10
 (OMIM) Epidermal thinning 1 / 7739
11
 (OMIM) Slight hyperkeratosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of ...
Molecular genetics OMIM By whole-exome sequencing in a 4-generation Japanese family with autosomal dominant reticulate acropigmentation, Kono et al. (2013) identified a 5-bp insertion in the ADAM10 gene (602192.0001) that segregated with disease in the family and was not found in ...