autosomal dominant palmoplantar keratoderma and congenital alopecia

ORPHA: 1010

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with autosomal dominant palmoplantar keratoderma and congenital alopecia, sourced from HPO and Orphanet clinical annotations.

Sparse eyelashesPalmoplantar keratodermaAbnormal nail morphologySparse scalp hairNail dystrophySparse eyebrowDry skinRidged nailGeneralized hypotrichosisDigital constriction ringSclerodactylyFlexion contracture of fingerKeratosis pilarisFacial erythemaPoor wound healingAbsent eyebrowAbsent hairMeningoceleTrichorrhexis nodosaUnilateral deafnessSkin fissureScaling skinNuclear cataractPhotophobiaSeizure

Classification & Codes

Orphanet Code

ORPHA:1010

autosomal dominant palmoplantar keratoderma and congenital alopecia

Orphanet	`ORPHA:1010`
Treatments	0 drug(s)
Symptoms on record	25 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO