Disease #02484

Official abbreviation PN
Name poikiloderma, with neutropenia (PN)
OMIM ID 604173
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 29
Phenotype entries for this disease 30
Associated with 1 gene USB1
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Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00057918 - PubMed: Colombo 2012 - F ? (France) African >37y 0 - - PN autosomal recessive poikiloderma (early onset) with ichthyosis, palmoplantar keratoderma, pachyonychia, mild photosensitivity, chronic neutropenia, recalcitrant pulmonary disease, evidence reduced reactive oxygen species production in neutrophils, Poikiloderma, palmoplantar hyperkeratosis, nail toes abnormalities, multiple bone fractures and calcification, neutropenia, chronic haemolysis, recurrent infections since infancy, atrophic polychondritis USB1 USB1 2 3 Ludovica Volpi
00057919 - PubMed: Colombo 2012, PubMed: Migliaccio 1999 - F no Italy Caucasian >22y 0 - - PN osteopetrosis at 2 months; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation USB1 USB1 2 1 Ludovica Volpi
00057920 - PubMed: Colombo 2012; PubMed: Altunay 2010 - M yes Turkey Caucasian >23y 0 - - PN Widespread poikiloderma, neutropenia, sun intolerance, erithema, saddle nose, maxillary hypoplasia, micrognathia, zygodactylya, osteopenia, recurrent leg ulcelrs with severe sepsis, low stature, hypogonadism. USB1 USB1 2 1 Ludovica Volpi
00057921 - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy Caucasian >25y 0 - - PN poikiloderma, non cyclic neutropenia, pachyonichia; midface hypoplasia, depressed nasal bridge, mild prognathism, frontal bossing, carious teeth, hyperlaxity of fingers, splenomegalia USB1 USB1 2 2 Ludovica Volpi
00057922 - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >20y 0 - - PN Midface Hypoplasia, Hypoplasia of lateral eyebrows, hypertelorism, hypermobile fingers with beak of swan appearance USB1 USB1 2 2 Ludovica Volpi
00057923 - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >18y 0 - - PN Microretrognathism, low posterior hairline, lateral hypoplasia of eyebrows, hypoplasia of nasal aleas, hypermobile fingers. Increased CPK and LDK. Myelodysplastic features. USB1 USB1 2 2 Ludovica Volpi
00057924 - PubMed: Colombo 2012 - M yes Turkey Caucasian >11y 0 - - PN Poikiloderma, neutropenia, plantar hyperkeratosis with desquamation, pachyonychia, caries tendency, saddle nose, widening of femoral metaphysis, recurrent pulmonary infections, low stature (<3rd centile) USB1 USB1 2 1 Ludovica Volpi
00057925 - PubMed: Colombo 2012 his mother had a miscarriage and an elder affected sister (not tested) died during infancy M yes Turkey Caucasian >18y 0 - - PN poikiloderma, neutropenia, palmoplantar and ear helixes hyperkeratosis, dry scalp hair, toe nails subungueal hyperkeratosis, delayed dental eruption, caries tendency, saddle short nose, flat broad face, caput quadratum, retrognathia, myelodysplasia, splenomegalia, recurrent pulmonary infections and meningitis, low stature (<3rd centile), hypogonadism. An affected elder sister (not tested) died during infancy USB1 USB1 2 1 Ludovica Volpi
00057926 - PubMed: Pianigiani 2001, PubMed: Volpi 2010 Compound heterozygous affected patient F no Italy Caucasian >22y 0 - - PN Diffuse poikiloderma, severe neutropenia, recurrent infections (otitis, bronchitis and gastroenteritis), saddle nose, hypertelorism, short stature, palmoplantar hyperkeratosis, onychodystrophy, delayed bone maturation, moderate splenomegalia USB1 USB1 2 2 Johan den Dunnen
00059215 - PubMed: Walne 2010 - F no ? (unknown) ? ? 0 - - PN diagnosed as affected with Rothmund-Thomson syndrome; poikiloderma (<2y), nail dystrophy, low neutrophil count, hypo-cellular bone marrow USB1 USB1 1 1 Elisa Adele Colombo
00059218 - PubMed: Arnold et al. 2010 The patient has an affected cousin, not molecularly tested. The mothers of the two cousins are sisters and the fathers are cousins. M ? - (not applicable) european mediterranean area in Montenegro >04y 0 - - PN poikiloderma on sun-exposed areas (arms, face and ears) and trunk; palmoplantar keratoderma; pachyonychia of the great toenails; photosensitivity; neutropenia; recurrent viral and bacterial infections; hepatosplenomegaly; nondescented or retractile testes; growth delay; elevated lactate dehydrogenase (>1000 U/L); transient thrombocytopenia; elevated ferritin (>1000 g/L) USB1 USB1 1 1 Elisa Adele Colombo
00059219 - PubMed: Mostefai et al. 2008, PubMed: Tanaka et al. 2010, PubMed: Walne et al 2010 the patient has an affected sister and an affected Brother. F yes Morocco Moroccan >08y 0 - - PN poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; myeloid abnormalities; splenomegaly; chronic pulmonary infiltrates following chest X-rays. USB1 USB1 1 1 Elisa Adele Colombo
00059220 - PubMed: Mostefai et al. 2008, PubMed: Tanaka et al. 2010, PubMed: Walne et al. 2010 this patient has an affected sister (LOVD ID 59219) and an affected brother F yes Morocco Moroccan - 0 - - PN poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; maturation defects in bone marrow lineages; splenomegaly; chronic pulmonary infiltrates following chest X-rays. USB1 USB1 1 1 Elisa Adele Colombo
00059221 - PubMed: Mostefai et al. 2008,PubMed: Tanaka et al. 2010,PubMed: Walne et al. 2010 the patient has two elder affected sisters (LOVD ID 59219 and 59220) M yes Morocco Moroccan - 0 - - PN poikiloderma, photosensitivity; atrophic scars on dorsum of limbs; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; transient thrombocytopenia and neutropenia; maturation defects in bone marrow lineages; chronic pulmonary infiltrates following chest X-rays. USB1 USB1 1 1 Elisa Adele Colombo
00089040 - PubMed: Walne 2010 affected sibling is reported ? yes ? (unknown) - - 0 - - PN poikiloderma, nail dystrophy, abnormal ear, short stature, developmental delay, low white blood cells, MDS changes USB1 USB1 1 1 Elisa Adele Colombo
00089042 - PubMed: Clericuzio et al. 2011; PubMed: Chantorn et al. 2012 patient has an affected brother M no India - >05y 0 - - PN Birth weight, length, and head circumference were all normal. A rash on lower legs and feet developed at approximately 10 months of age, then spread along the hands, forearms, thighs, buttock, ears and face. Poikiloderma spared the trunk, abdomen, and popliteal and antecubital fossae. Multiple infections, including rhinitis, otitis media and pneumonia since 1 year of age, were reported. Nail, hair, teeth, palms and soles were all normal. No hepatosplenomegaly. No osteopenia. Social and cognitive development were within normal limits. USB1 USB1 1 1 Elisa Adele Colombo
00089055 - PubMed: Piard et al. 2012 - F no ? (unknown) - >04y 0 - - PN generalized poikiloderma, which appeared in the first days of life, neutropenia, photosensitivity, dental dysplasia and nail dystrophy; no history of recurrent infections was reported; birth parameters were normal; no growth delay, no intellectual disability USB1 USB1 2 1 Elisa Adele Colombo
00089060 - PubMed: Suter et al.2016 - ? ? ? (unknown) - - 0 - - PN poikiloderma, neutropenia, short stature, hypogonadotropic hypogonadism (on hormonal replacement therapy) and noncaseating granuloma involving the lungs with interstitial lung disease and bronchiectasis. USB1 USB1 1 1 Elisa Adele Colombo
00089064 - PubMed: Clericuzio et al. 2011 - F no ? (unknown) 6.25% Cherokee, 93,75% Caucasian >07y 0 - - PN Cutaneous rash started at 4 months of age, then evolved in poikiloderma; neutropenia; recurrent otitis media, bronchitis, cellulitis; pachyonychia; autoimmune thyroiditis; history of chronic diarrhea in infancy; calcinosis cutis. The patient received GCSF. Bone marrow studies were normal. USB1 USB1 2 1 Elisa Adele Colombo
00090108 - PubMed: Walne et al. 2010 - M yes ? (unknown) - - 0 - - PN poikiloderma; sparse eyelashes; dental problems; skeletal alterations; enlarged liver-spleen; phimosis; short stature; neutropenia; myelodysplastic changes USB1 USB1 1 1 Elisa Adele Colombo
00090109 - PubMed: Clericuzio et al. 2011 PubMed: Wang et al. 2003 She has an affected fraternal twin Brother. F no Scotland - >04y 0 - - PN poikiloderma; neutropenia since Birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis; nail dystrophy USB1 USB1 2 1 Elisa Adele Colombo
00090110 - PubMed: Clericuzio et al. 2011 - M ? United States Navajo - 0 - - PN cutaneous rash since age 5 m; neutropenia; transient thrombocytopenia; pachyonychia; chronic cough; history of diarrhea; normal bone marrow studies. USB1 USB1 1 1 Elisa Adele Colombo
00090111 - PubMed: Farruggia et al. 2014 - F no Italy - >03y 0 - - PN low Birth weight; cutaneous changes since age 6m then evolved in poikiloderma; neutropenia since age 41d; pachyonychia; hyperkeratosis; dysmorphic features (small nose, depressed nasal bridge, mild micrognathia, prominent forehead); sparse hair and eyebrows; failure to thrive and frequent regurgitations in early infancy. Bone marrow studies showed decreased cellularity and mild abnormal differentiation of myeloid and erythroid precursors. USB1 USB1 1 1 Elisa Adele Colombo
00090113 - PubMed: Walne et al. 2010 - F no ? (unknown) - - 0 - - PN poikiloderma; neutropenia; prominent forehead; dental problems. USB1 USB1 1 1 Elisa Adele Colombo
00090114 - PubMed: Clericuzio et al. 2011 - F ? (England) Turkish-British >04y 0 - patient received GCSF PN Poikiloderma started as a rash since age 3 m; neutropenia; pachyonychia; hyperkeratosis; cellulitis; mastoiditis; history of mild anemia; increased myeloid precursors in bone marrow. USB1 USB1 1 1 Elisa Adele Colombo
00090115 - PubMed: Walne et al. 2016 - M yes Afghanistan - - 0 - - PN poikiloderma; neutropenia; nail dystrophy; leukoplakia; abnormal facies; bone marrow failure; immunodeficiency. USB1 USB1 1 1 Elisa Adele Colombo
00090116 - PubMed: Walne et al. 2016 - F no Afghanistan - - 0 - - PN abnormal skin pigmentation; neutropenia, nail dystrophy; immune deficiency. USB1 USB1 1 1 Elisa Adele Colombo
00154504 - PubMed: Aglaguel 2017 - F yes Morocco - >11y 0 - - PN poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, sparse eyebrows, dental caries, failure to thrive, hypogonadism, delayed puberty, osteopenia, neutropenia, decreased NK cells, polyclonal hypergammaglobulinemia, recurrent pulmonary infections, bilateral bronchiectasis. USB1 USB1 1 2 Elisa Adele Colombo
00154505 Patient 3, family 2 PubMed: Aglaguel 2017 - F yes Morocco - >13y 0 - - PN generalized poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, failure to thrive, photosensitivity, hypogonadism, delayed peberty, neutropenia, decreased number of CD8 cells, bilateral bronchiectasis. USB1 USB1 1 1 Elisa Adele Colombo
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