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Poikiloderma with neutropenia

Synonyms
Poikiloderma with neutropenia Clericuzio type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Poikiloderma with Neutropenia
Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (appears at ages 6-12 months) followed by post-inflammatory poikiloderma (at age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome, acute myelogenous leukemia, and skin cancer. Other ectodermal findings include thickened nails, nail dystrophy, and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease, and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lisa Wang
Carol Clericuzio
Lidia Larizza
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Available tests

43 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C16orf57, HVSL1, Mpn1, PN, hMpn1, hUsb1, USB1
    Summary: U6 snRNA biogenesis phosphodiesterase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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