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anonychia with flexural pigmentation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

anonychia with flexural pigmentation

MONDO:0007131

Overview

Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.

GeneticsAutosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Axillary and groin hyperpigmentation and hypopigmentation, Anonychia, Convex nasal ridge, and Carious teeth and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	8	Dry skin, Axillary and groin hyperpigmentation and hypopigmentation, Thickened, rough skin (hyperkeratosis)

Prognosis

Phenotype severity distribution: 13 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for anonychia with flexural pigmentation.

2 publications have been identified in PubMed for anonychia with flexural pigmentation. Research spans Review / Meta-Analysis (100%).

Recent Publications

Shi CR (2024). [PMID: 39370234](https://pubmed.ncbi.nlm.nih.gov/39370234/). *Transplant Cell Ther*. [Review / Meta-Analysis]
Neri Morales C (2024). [PMID: 38940945](https://pubmed.ncbi.nlm.nih.gov/38940945/). *Arch Dermatol Res*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:106750

Orphanet

European rare disease database

Orphanet:69125

GARD

Genetic and Rare Diseases Info Center

GARD:16682

Questions for Your Care Team

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anonychia with flexural pigmentation

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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