hereditary acrokeratotic poikiloderma, weary type

ORPHA: 2907

Overview

human disease

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 hereditary acrokeratotic poikiloderma, weary type, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityGingivitisThin skinEczematoid dermatitisUrticariaHypopigmented skin patchesDystrophic toenailPremature loss of primary teethIrregular hyperpigmentationIchthyosisAbnormal blistering of the skinDystrophic fingernailsNail dystrophyErythemaTelangiectasia of the skinPapulePustuleNarrow mouthAbnormality of the dentitionXerostomiaGingival bleedingTurricephalyAbnormal skull morphologyPalmoplantar hyperkeratosisOral leukoplakiaAnkyloglossiaAbnormal preputium morphologyAbnormal pigmentation of the oral mucosaSkin ulcerAbnormal renal tubule morphologyTrismusHearing impairmentEctropionAbnormal rib morphologyAbnormality of the urethraAbnormality of the skeletal systemKeratoconjunctivitisSquamous cell carcinomaAbnormal hip bone morphologyShort statureAbnormal metacarpal morphologyFinger syndactylyTransitional cell carcinoma of the bladderOpacification of the corneal stromaOpen biteAbnormality of the gastrointestinal tractCamptodactyly of finger

Classification & Codes

Orphanet Code

ORPHA:2907
hereditary acrokeratotic poikiloderma, weary type
OrphanetORPHA:2907
Treatments0 drug(s)
Symptoms on record47 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO