poikiloderma with neutropenia
Findings
No curated finding names poikiloderma with neutropenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
Definition from the Mondo Disease Ontology (MONDO:0011405), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
37 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.
- Carious teethHPOHP:0000670
- 3 of 3 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 3 of 3 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 19 of 19 reported patients
- Nasolacrimal duct obstructionHPOHP:0000579
- 3 of 3 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 3 of 3 reported patients
- Plantar hyperkeratosisHPOHP:0007556
- 3 of 3 reported patients
- PoikilodermaHPO
Show the remaining 25
- SplenomegalyHPOHP:0001744
- 5 of 6 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 3 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 4 of 6 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 4 of 6 reported patients
- Recurrent sinusitisHPOHP:0011108
- 4 of 6 reported patients
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.
- USB1HGNC:25792
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: poikiloderma with neutropenia
- Also called
- poikiloderma with neutropenia, Clericuzio type