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PN
MCID: PKL001
MIFTS: 44
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Poikiloderma with Neutropenia (PN)
Categories:
Blood diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Poikiloderma with Neutropenia:
Characteristics:Orphanet epidemiological data:59
poikiloderma with neutropenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Blood diseases
ICD10:
33
34
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UniProtKB/Swiss-Prot
:
75
Poikiloderma with neutropenia: A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund- Thomson syndrome.
MalaCards based summary : Poikiloderma with Neutropenia, also known as poikiloderma with neutropenia, clericuzio type, is related to dyskeratosis congenita and prurigo nodularis. An important gene associated with Poikiloderma with Neutropenia is USB1 (U6 SnRNA Biogenesis Phosphodiesterase 1), and among its related pathways/superpathways is C-MYB transcription factor network. Affiliated tissues include skin, bone and neutrophil, and related phenotypes are malar flattening and hypertelorism Disease Ontology : 12 A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has material basis in mutation in the C16ORF57 gene on chromosome 16q13. Genetics Home Reference : 25 Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system. This condition begins with a bumpy rash that usually appears between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades, and the affected child is left with darker and lighter patches of skin coloring (hyperpigmentation and hypopigmentation) and small clusters of blood vessels just under the skin (telangiectases); this combination is known as poikiloderma. Other skin problems include unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma); calcium deposits that form small nodules (calcinosis cutis), especially on the knees, elbows, or ears; or sores (ulcers) that do not easily heal. Affected individuals also have fingernails and toenails that are thick and abnormally shaped (pachyonychia), fragile teeth, and low bone density. NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 221046Disease definitionPoikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.Visit the Orphanet disease page for more resources.
Description from OMIM:
604173
GeneReviews:
NBK459118
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:604173Human phenotypes related to Poikiloderma with Neutropenia:32 (show all 11)
GenomeRNAi Phenotypes related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:26 (show all 29)
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Cochrane evidence based reviews: poikiloderma with neutropenia |
MalaCards organs/tissues related to Poikiloderma with Neutropenia:41
Skin,
Bone,
Neutrophil,
Bone Marrow,
Lung,
T Cells,
B Cells
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Articles related to Poikiloderma with Neutropenia:(show all 29)
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Genes related to Poikiloderma with Neutropenia (1 elite genes):(show all 20) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Poikiloderma with Neutropenia:6 (show all 48)
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Search
GEO
for disease gene expression data for Poikiloderma with Neutropenia.
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Cellular components related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:
Biological processes related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:
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