hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Findings
No curated finding names hereditary sclerosing poikiloderma with tendon and pulmonary involvement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
Definition from the Mondo Disease Ontology (MONDO:0014310), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- 8 of 8 reported patients
- Areflexia of lower limbsHPOHP:0002522
- 3 of 3 reported patients
- Delayed pubertyHPOHP:0000823
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- HypohidrosisHPOHP:0000966
- 7 of 7 reported patients
- Muscle weaknessHPOHP:0001324
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FAM111BHGNC:24200
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · ClinGen · Autosomal dominant · 2023
- Moderate · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: hereditary sclerosing poikiloderma with tendon and pulmonary involvement
- Also called
- POIKTMP syndrome