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RAK
MCID: RTC008
MIFTS: 37
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Reticulate Acropigmentation of Kitamura (RAK)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Reticulate Acropigmentation of Kitamura:
Characteristics:Orphanet epidemiological data:58
reticulate acropigmentation of kitamura
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in first or second decade of life HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare skin diseases External Ids:
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OMIM® :
57
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 the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, partial alopecia, and occasionally plantar keratoderma. Histopathologically, the brown macules show pigmentation in the tip of rete ridges with thinning of the epidermis, elongation and thinning of the rete ridges, and slight hyperkeratosis without parakeratosis. Only a few inflammatory cell infiltrates and no incontinentia pigmenti are seen in the dermis (summary by Kono et al., 2013).
(615537) (Updated 05-Mar-2021)
MalaCards based summary : Reticulate Acropigmentation of Kitamura, also known as rak, is related to dowling-degos disease 1 and dowling-degos disease. An important gene associated with Reticulate Acropigmentation of Kitamura is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways is Notch Signaling Pathway (sino). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and Decreased shRNA abundance (Z-score < -2) Disease Ontology : 12 A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. UniProtKB/Swiss-Prot : 73 Reticulate acropigmentation of Kitamura: A rare cutaneous pigmentation disorder characterized by reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet and appearing in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities. The manifestations tend to progress until middle age, after which progression of the eruptions stops. The pigmentary augmentation is found on the flexor aspects of the wrists, neck, patella and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, occasionally plantar keratoderma, and partial alopecia. Wikipedia : 74 Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to 4 mm... more... |
Human phenotypes related to Reticulate Acropigmentation of Kitamura:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615537 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Reticulate Acropigmentation of Kitamura according to GeneCards Suite gene sharing:26 (show all 24)
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MalaCards organs/tissues related to Reticulate Acropigmentation of Kitamura:40
Skin
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Articles related to Reticulate Acropigmentation of Kitamura:(show top 50) (show all 54)
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Genes related to Reticulate Acropigmentation of Kitamura (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Reticulate Acropigmentation of Kitamura:6
UniProtKB/Swiss-Prot genetic disease variations for Reticulate Acropigmentation of Kitamura:73
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Biological processes related to Reticulate Acropigmentation of Kitamura according to GeneCards Suite gene sharing:
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