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inherited isolated nail anomaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited isolated nail anomaly

MONDO:0019284

Also known as:nail disorder, nonsyndromic congenitalnonsyndromic nail anomalyisolated nail anomaly

Overview

A nail anomaly that is not part of a larger syndrome.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Dystrophic epidermolysis bullosa (DEB) is characterized by increased skin fragility and dystrophic or absent nails; features are usually present at birth . DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into clinical subtypes based on severity. Table 2. Dystrophic Epidermolysis Bullosa: Frequent Features of the Most Common Subtypes Clinical Features | DEB Subtype

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Dystrophic epidermolysis bullosa (DEB) should be suspected in individuals with the following clinical findings:

Source: GeneReviews — "Dystrophic Epidermolysis Bullosa"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for inherited isolated nail anomaly. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

International clinical practice guidelines for dystrophic epidermolysis bullosa (DEB) have been published by DEBRA International. These include guidelines for treatment of anemia, foot care, occupational therapy, palliative and end-of-life care, psychosocial care, neonatal care, cancer management, hand surgery and hand therapy, oral health care, physical therapy, skin and wound care, constipation management, pain care, pregnancy, childbirth, and aftercare, and supporting sexuality.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 8. Dystrophic Epidermolysis Bullosa: Recommended Surveillance

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 inherited isolated nail anomaly.

21 publications have been identified in PubMed for inherited isolated nail anomaly. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	7	35%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79369

GARD

Genetic and Rare Diseases Info Center

GARD:19000

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Severe recessive	Intermediate recessive	Intermediate dominant	Localized dominant
Age of onset	Birth	Birth or infancy	Birth, infancy, or childhood
Blisters	Yes	Yes	Yes
Nail involvement	Yes	Yes	Yes
Esophageal strictures	Yes	Rarely	Very rarely
Absent lingual papillae1	Yes	Yes	No

Kisho

inherited isolated nail anomaly

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Evaluations Following Initial Diagnosis

Oral mucosa

Gastrointestinal

Nutrition/Growth

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

inherited isolated nail anomaly

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Evaluations Following Initial Diagnosis

Oral mucosa

Gastrointestinal

Nutrition/Growth

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications