Reticulate Acropigmentation of Kitamura (RAK)

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Disease Ontology 12 DOID:0060258 OMIM 56 615537 OMIM Phenotypic Series 56 PS179850 MeSH 43 D010859 SNOMED-CT 67 239133004 ICD10 via Orphanet 33 L81.8

UMLS via Orphanet 72 C0406811 Orphanet 58 ORPHA178307 MedGen 41 C0406811 SNOMED-CT via HPO 68 263681008 26996000 396228006 399955009 more UMLS 71 C0406811

OMIM : ⁵⁶ 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)

MalaCards based summary : Reticulate Acropigmentation of Kitamura, also known as rak, is related to dowling-degos disease and dyschromatosis universalis hereditaria. An important gene associated with Reticulate Acropigmentation of Kitamura is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. 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...

Clinical features from OMIM:

615537

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-109	9.28	CWC15
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-147	9.28	KRT4
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-188	9.28	KRT4
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-208	9.28	POFUT1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-6	9.28	CWC15
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	9.28	CWC15
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-63	9.28	KRT4
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-67	9.28	KRT4
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-93	9.28	POFUT1

Search Clinical Trials , NIH Clinical Center for Reticulate Acropigmentation of Kitamura

Search GEO for disease gene expression data for Reticulate Acropigmentation of Kitamura.