Pelger-Huet Anomaly: Causes & Reasons

Possible Causes for Pelger-Huet Anomaly

Neutrophil nuclei can show hypolobation (pseudo-Pelger-Huet anomaly) or hyperlobation. Platelets may be large or agranular. [clinicaladvisor.com]

Very abnormal nuclei, such as Pelger-Huet anomalies and hypo- or hypergranulation, and ring shaped nuclei in neutrophils. [intechopen.com]

Peripheral blood may reveal very abnormal nuclei such as Pelger-Huet anomalies and hypo-or hypersegmentation and ring forms nuclei also occur in neutrophils are important [intechopen.com]

Primary Myelofibrosis

Primary myelofibrosis (PMF) is a clonal hematopoietic stem cell disorder. It is characterized by bone marrow fibrosis, extramedullary hematopoiesis with hepatosplenomegaly and leukoerythroblastosis in the peripheral blood. The main clinical manifestations of PMF are anemia, bleeding, hepatosplenomegaly, fatigue, and fever.[…] [ncbi.nlm.nih.gov]

Hereditary Neutrophilia

PMID 18452694. ^ Pelger-Huet Anomaly at eMedicine v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 [en.wikipedia.org]

May-Hegglin anomaly Pelger Huet anomaly Pelger-HuÃ«t anomaly Pelger-Huet anomaly Applies To Anomaly (granulation) (granulocyte) or syndrome: Alder's (-Reilly) Chédiak-Steinbrinck [icd9data.com]

This can resemble Pelger-Huet anomaly. [1] [2] Leukocytosis Eosinophilia Monocytosis Lymphocytosis Agranulocytosis Complete blood count References ↑ Mohamed IS, Wynn RJ, Cominsky [wikidoc.org]

Limb-Girdle Muscular Dystrophy Type 1G

[…] ocular albinism with sensorineural deafness Opitz GBBB Syndrome, Type II ovarian dysgenesis 8 pachyonychia congenita + Pallister-Hall syndrome + PAPA syndrome paraganglioma + Pelger-Huet [rgd.mcw.edu]

[…] muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet [en.wikipedia.org]

anomaly + permanent neonatal diabetes mellitus + photosensitive trichothiodystrophy + piebaldism + polycystic liver disease + popliteal pterygium syndrome + proximal symphalangism [rgd.mcw.edu]

Erb Muscular Dystrophy

Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Clinical, pathologic and linkage considerations. [emedicine.medscape.com]

anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary [en.wikipedia.org]

Basophil Adenoma

anomaly + Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain phagocyte bactericidal dysfunction + Phagocytosis, Plasma-Related Defect in pituitary adenoma + [rgd.mcw.edu]

[…] neuroendocrine neoplasm oxyphilic adenoma + Pancreatic Adenoma + Pancreatic Islet Cell Tumors + papillary adenoma + parathyroid adenoma + Parathyroid Adenomatosis, Familial Cystic Pelger-Huet [rgd.mcw.edu]

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

[…] retardation, and sensitivity to ionizing radiation Short stature syndrome Short stature, microcephaly, and endocrine dysfunction Short stature, optic nerve atrophy, and Pelger-Huet [qlinics.com]

[…] dysplasia, type 3 Multiple epiphyseal dysplasia, type 4 Multiple epiphyseal dysplasia, type 5 Multiple epiphyseal dysplasia, type 6 Osteopetrosis, type 5 Osteopetrosis, type 6 Pelger-Huet [sickkids.ca]

Pallister-Hall syndrome (GLI3) Cost: 30000.00 Test Offer Papillorenal syndrome (PAX2) Cost: 30000.00 Test Offer Parietal foramina type 1 (MSX2) Cost: 30000.00 Test Offer Pelger-Huet [dnalabsindia.com]

Hirschsprung Disease Type D-Brachydactyly Syndrome

[…] sensitivity to ionizing radiation NHEJ1 Short stature syndrome SHOX Short stature, microcephaly, and endocrine dysfunction XRCC4 Short stature, optic nerve atrophy, and Pelger-Huet [centogene.com]

2 Short Stature, Mcrocephaly, and Endocrine Dysfunction 1 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1 Short stature, Optic nerve atrophy, and Pelger-Huet [preventiongenetics.com]

Otospondylomegaepiphyseal dysplasia COL2A1 Otospondylomegaepiphyseal dysplasia COL11A2 Pallister-Hall syndrome GLI3 Papillorenal syndrome PAX2 Parietal foramina type 1 MSX2 Pelger-Huet [centogene.com]

Pelger-Huet Anomaly

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A. 2013 Aug. 161A(8):2066-73. [QxMD MEDLINE Link]. [emedicine.medscape.com]

General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > pseudo Pelger-Huet anomaly Sunday 2 October 2016 Pseudo Pelger-Huet anomaly, like Pelger-Huet [humpath.com]

PREFERRED TERM Pelger-Huet Anomaly ENTRY TERMS Anomaly, Pelger-Huët Anomaly, Pelger-Huet Nuclear Anomaly, Pelger-Huët Nuclear Nuclear Anomaly, Pelger-Huet Nuclear Anomaly, [finto.fi]

Deafness, Autosomal Dominant 23

[…] hypoplastic Congenital toxoplasmosis Charcot-Marie-Tooth disease Ring chromosome 20 Spondyloepimetaphyseal dysplasia Missouri type BOR-Duane hydrocephalus contiguous gene syndrome Pelger-Huet [checkrare.com]

Pelviscapular Dysplasia

Huet Like Databases Pelger Huet Like Anomaly Episodic Fever Abdominal Pain Databases Pellagra Databases Pellagra Like Databases Pellagra Like Syndrome Databases Pelvic Hypoplasia [vadlo.com]

Huet anomaly - See Pelger-Huet anomaly Pelger-Huet anomaly Pelger-Huet nuclear anomaly - See Pelger-Huet anomaly Pelizaeus Merzbacher brain sclerosis - See Pelizaeus-Merzbacher [herenciageneticayenfermedad.blogspot.com]

[…] craniosynostosis Ulcerative colitis pediatric Duplication 22q11 q13 obstructive pulmonary disease Oudtshoorn skin Larsen-like syndrome Laryngeal abductor paralysis mental Pelger-Huet [yumpu.com]

Patterson Pseudoleprechaunism Syndrome

Huet Like Databases Pelger Huet Like Anomaly Episodic Fever Abdominal Pain Databases Pellagra Databases Pellagra Like Databases Pellagra Like Syndrome Databases Pelvic Hypoplasia [vadlo.com]

[…] syndrome Pectus carinatum Pediatric Crohns disease Pediatric multiple sclerosis Pediatric T-cell leukemia Pediatric ulcerative colitis Peeling skin syndrome PEHO syndrome Pelger-Huet [personalizedcause.com]

Metaphyseal Anadysplasia

(OLEDAID) KAT6B Genitopatellar syndrome, Ohdo syndrome, SBBYS variant LBR Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet [genda.com.ar]

Long QT Syndrome 5

Long QT Syndrome 3

Genetic Anomaly of Leukocytes

An acquired or pseudo-Pelger-Huet anomaly is seen in myelodysplastic disorders and following drug therapy, and may accompany leukemia and certain infections. [med-ed.virginia.edu]

INHERITED WHITE CELL AND PLATELET DISORDERS Chediak-Higashi Syndrome Gray Platelet Syndrome May-Hegglin Anomaly Pelger-Huet Anomaly IV. [euro-libris.ro]

Steatocystoma Multiplex With Natal Teeth

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

(OLEDAID) KAT6B Genitopatellar syndrome, Ohdo syndrome, SBBYS variant LBR Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet [genda.com.ar]

(CFTR, CPA1, CTRC, PRSS1, SPINK1) 5 Pancreatitis, hereditary 5 Partington Syndrome (ARX) 1 Partington Syndrome (ARX) 1 Peeling Skin Syndrome (CDSN, CHST8, CSTA, TGM5) 4 Pelger-Huet [viafet.com]

Stature-Obesity Syndrome; SSOS OMIM:614813 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis; SOFT OMIM:614800 Short Stature, Optic Nerve Atrophy, and Pelger-Huet [informatics.jax.org]

Long QT Syndrome 1

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1 ) · LMNB ( Barraquer–Simons syndrome ) · LEMD3 ( Buschke–Ollendorff syndrome, Osteopoikilosis ) · LBR ( Pelger-Huet [wiki30.com]

Osteoglophonic Dwarfism

(OLEDAID) KAT6B Genitopatellar syndrome, Ohdo syndrome, SBBYS variant LBR Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet [genda.com.ar]

Autosomal Dominant Deafness 11

anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary [ipfs.io]

Autosomal Dominant Aplasia and Myelodysplasia

Myelokathexis of neutrophils and precursors: hypogranulation, Pseudo-Pelger-Huet anomaly (bilobed/hyposegmented neutrophils) How are platelets defective in Myelodysplastic [brainscape.com]

Metaphyseal Chondrodysplasia, Spahr Type

[…] synostosis 1713 3-hydroxy-3-methylglutaric aciduria 1714 central precocious puberty 1715 heritable pulmonary arterial hypertension 1716 hereditary sensory neuropathy 1717 pelger-huet [pediascape.org]

anomaly 1718 ascites, chylous 1719 myotonia permanens 1720 mycoplasmal pneumonia 1721 acute interstitial pneumonia 1722 cervical dystonia 1723 bifid uvula 1724 acute myocarditis [pediascape.org]

Schneckenbecken Dysplasia

Premature Aging Type Okamoto

Protoporphyria Proud Levine Carpenter syndrome Proximal spinal muscular atrophy Prune belly syndrome Prurigo nodularis Pruritic urticarial papules plaques of pregnancy Pseudo Pelger-Huet [personalizedcause.com]

anomaly Pseudo-Turner syndrome Pseudo-Von Willebrand disease Pseudoachondroplasia Pseudoachondroplastic dysplasia 2 Pseudoainhum Pseudoaldosteronism Pseudoaminopterin syndrome [personalizedcause.com]

Auriculoosteodysplasia

Macrothrombocytopenia Bernard-Soulier syndrome MYH9-related disease Glanzmann thrombasthenia Thrombotic thrombocytopenic purpura Congenital amegakaryocytic thrombocytopenia Pelger-Huet [csirnotes.com]

Limb-Girdle Muscular Dystrophy Type 2C

anomaly of the leukocytes. [scinapse.io]

[…] complete medical examinations with appropriate laboratory tests to evaluate the presence of two autosomal dominant conditions: an unusual form of muscular dystrophy and the Pelger-Huet [scinapse.io]

Waters-West Syndrome

Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Handanomalies Ring Chromosome 10 Roberts Syndrome Seckel Syndrome Seckel Syndrome 1 Short Stature, Optic Nerve Atrophy, And Pelger-Huet [familydiagnosis.com]

613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 LBR 1q42.12 Reynolds syndrome 613471 Greenberg skeletal dysplasia 215140 Pelger-Huet [institutobernabeu.com]

X-Linked Mandibulofacial Dysostosis

Orofaciodigital syndrome Osteoglophonic dysplasia Otofaciocervical syndrome Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Papillorenal syndrome Parietal foramina Pelger-Huet [qlinics.com]

anomaly Pelvic organ prolapse, LAMC1 related Perlman Syndrome Pfeiffer syndrome Phelan-McDermid syndrome Pitt-Hopkins syndrome Pituitary hormone deficiency Platyspondylic [qlinics.com]