Usually, the congenital form is not associated with thrombocytopenia and leukopenia, so if these features are present more detailed search for myelodysplasia is warranted, as pseudo-Pelger–Huët anomaly can be an early feature of myelodysplasia. [askhematologist.com]

PHA is characterized by morphologically abnormal neutrophils that look like band cells without any obvious neutrophilia.1 CASE PRESENTATION: A 67 year old gentleman presented with a 1-day history of fever and night sweats. [journal.chestnet.org]

Its transmittance is autosomal dominant and the anomaly is present in about one out of every 6000 people. It is due to a mutation in the lamin β-receptor gene. [labce.com]

Complete blood cell count from a dog with Pelger-Huët anomaly at initial presentation (sample 1), 17 (sample 2), and 120 days (sample 3) post diagnosis. Hematology data from the dam also is presented and is consistent with Pelger-Huët anomaly. [doi.org]

• Anemia

  […] pseudo-Pelger-Huët anomaly, cells may appear morphologically similar to inherited Pelger-Huët anomaly, but absence of these findings in other family members, a low percentage of affected cells (usually 5-20%), and involvement of other cell lines (eg, anemia [askhematologist.com]

  Anomalous cells of the Pelger-Huët type appear mainly in diseases affecting granulopoiesis such as myeloproliferative disorders, aplastic anemia and agranulocytosis [1]. [ncbi.nlm.nih.gov]

  […] aspirates and peripheral blood (PB) specimens from 56 MDS patients were examined for apoptosis using light microscopy (LM), electron microscopy (EM), and in situ end labeling (ISEL) of DNA, as described earlier. 10 Of these, 25 patients had refractory anemia [bloodjournal.org]

• Pain

  Abstract A family has previously been described in which four members with Pelger-Huët (P-H) anomaly suffered from recurrent attacks of abdominal pain and fever, while one member, whose polymorphonuclear leucocytes (PMNs) were also hyposegmented, was [ncbi.nlm.nih.gov]

  A 14-year-old girl presented to a hospital with concern for progressively worsening diffuse abdominal pain. The consumption of food exacerbated the abdominal pain, and she had been experiencing 1 or 2 loose bowel movements a day over the past month. [consultant360.com]

  Narrative Medicine Nephrology Neurology Neuroscience and Psychiatry Notable Notes Nursing Nutrition Nutrition, Obesity, Exercise Obesity Obstetrics and Gynecology Occupational Health Oncology Ophthalmic Images Ophthalmology Orthopedics Otolaryngology Pain [jamanetwork.com]

• Multiple Congenital Anomalies

  We report a new case of Pelger-Huet anomaly (PHA) evident from the first day of life in an infant with multiple congenital anomalies suggestive of Fryn syndrome. [ncbi.nlm.nih.gov]

  Journal Article We report a new case of Pelger-Huet anomaly (PHA) evident from the first day of life in an infant with multiple congenital anomalies suggestive of Fryn syndrome. [scholars.duke.edu]

  Abstract We report a new case of Pelger‐Huet anomaly (PHA) evident from the first day of life in an infant with multiple congenital anomalies suggestive of Fryn syndrome. [onlinelibrary.wiley.com]

• Candidiasis

  Fluconazole therapy was started for oral candidiasis on day 112, but she complained of headache soon after. [ncbi.nlm.nih.gov]

  Although people with concommittant MPO deficiency and diabetes mellitus may develop Candidiasis, MPO deficiency in most people is of no clinical consequence. [med-ed.virginia.edu]

• Failure to Thrive

  Additional features in this child included failure to thrive, developmental delay, cleft palate, seizure disorder, and dysmorphic facial features. [ncbi.nlm.nih.gov]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Foot dorsiflexor weakness Foot drop 0009027 Frontal bossing 0002007 Generalized tonic-clonic seizures Grand mal seizures 0002069 Giant platelets 0001902 Gingival overgrowth Gum enlargement [rarediseases.info.nih.gov]

• Abdominal Pain

  Abstract A family has previously been described in which four members with Pelger-Huët (P-H) anomaly suffered from recurrent attacks of abdominal pain and fever, while one member, whose polymorphonuclear leucocytes (PMNs) were also hyposegmented, was [ncbi.nlm.nih.gov]

  A 14-year-old girl presented to a hospital with concern for progressively worsening diffuse abdominal pain. The consumption of food exacerbated the abdominal pain, and she had been experiencing 1 or 2 loose bowel movements a day over the past month. [consultant360.com]

• Headache

  Fluconazole therapy was started for oral candidiasis on day 112, but she complained of headache soon after. [ncbi.nlm.nih.gov]

  The smear was prepared from a 59-year old male who presented fever, chills, headache, sweats, fatigue, nausea and vomiting in a cyclic manner having returned from aboard for a week or so. [hkimls.org]

This article relates the history of the Pelger-Huet anomaly as well as describes the clinical significance and diagnostic workup for the finding of a Pelger-Huet cell on peripheral smear. [ncbi.nlm.nih.gov]

Homozygous individuals are extremely rare and inconsistently have skeletal anomalies such as postaxial polydactyly, short metacarpals, short upper limbs, short stature, or hyperkyphosis. [4] Workup in and management of Pelger-Huët anomaly The diagnosis [emedicine.medscape.com]

This article relates the history of the Pelger‐Huet anomaly as well as describes the clinical significance and diagnostic workup for the finding of a Pelger‐Huet cell on peripheral smear. Am. J. Hematol., 2009. © 2008 Wiley‐Liss, Inc. [doi.org]

The patient underwent a complete diagnostic workup, including a physical examination, blood work, and stool studies. On physical examination, the girl’s vital signs were stable, and she was in no apparent distress. [consultant360.com]

• Glycosuria

  In addition to glycosuria and increased serum creatinine levels, Pelger-Huët anomaly of granulocytes was found in her blood, which disappeared after discontinuation of tacrolimus. [ncbi.nlm.nih.gov]

• Pelger-Huet Anomaly

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

  Acquired Pelger-Huet anomaly has been found in association with both hematologic and nonhematologic diseases. [ncbi.nlm.nih.gov]

  Pelger-huet Anomaly and a Mild Skeletal Phenotype Secondary to Mutations in LBR. Am J Med Genet A. 2013;161A(8):2066-73. PubMed PMID: 23824842. TY - JOUR T1 - Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. [unboundmedicine.com]

• Neutropenia

  D70.0 Congenital agranulocytosis D70.1 Agranulocytosis secondary to cancer chemotherapy D70.2 Other drug-induced agranulocytosis D70.3 Neutropenia due to infection D70.4 Cyclic neutropenia D70.8 Other neutropenia D70.9 Neutropenia, unspecified D71 Functional [icd10data.com]

  Chediak-higashi syndrome (chs) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection [icd9data.com]

  This is associated with things like: leukemias albinism Author: John Lazarchick Category: Myeloid Disorders > Congenital Neutropenia syndromes Published Date: 10/15/2002 "Neutrophil from a patient with Chediak-Higashi Syndrome. [hematologylearning.weebly.com]

  […] lower leg reflex 0002395 Lower limb hypertonia 0006895 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Median cleft palate Central cleft palate Midline cleft palate [ more ] 0009099 Mild short stature 0003502 Neutropenia [rarediseases.info.nih.gov]

• Leukopenia

  Usually, the congenital form is not associated with thrombocytopenia and leukopenia, so if these features are present more detailed search for myelodysplasia is warranted, as pseudo-Pelger–Huët anomaly can be an early feature of myelodysplasia. [askhematologist.com]

  Usually the congenital form is not associated with thrombocytopenia and leukopenia, so if these features are present more detailed search for myelodysplasia is warranted, as pseudo-Pelger–Huët anomaly can be an early feature of myelodysplasia. [softenpoche.com]

  Usually the congenital form is not associated with thrombocytopenia and leukopenia, so if these features are present more detailed search for myelodysplasia is warranted, as pseudo-Pelger–Huët anomaly can be an early feature of myelodysplasia.[8] References [en.wikipedia.org]

Hyposegmentation can be due to mutations in the LBR-gene (Pelger-Huët-Anomaly) or can be induced, for example, by colchicine treatment. [ncbi.nlm.nih.gov]

No treatment is needed in individuals with PHA. [emedicine.medscape.com]

Treatment - Pelger-Huet anomaly Generally, treatment of epilepsy consists of anticonvulsant therapy to reduce the number of future seizures. [checkorphan.org]

Prognosis - Pelger-Huet anomaly The \'prognosis\' of Pelger-Huet anomaly usually refers to the likely outcome of Pelger-Huet anomaly. [checkorphan.org]

A systematic classification of megakaryocytic dysplasia and its impact on prognosis for patients with myelodysplastic syndromes. [pubmed.ncbi.nlm.nih.gov]

DISCUSSION In 1928, Karl Pelger, a Dutch tuberculosis specialist, made this observation about the appearance of neutrophils in the peripheral smears of severely ill patients with disseminated tuberculosis and associated it with a poor prognosis: “These [consultant360.com]

7–20 Among the multiple other causes, increased use of transplant medications 7–10 and other drugs 11–17 has become a major etiology for this morphologic deviation. [dx.doi.org]

7-20 Among the multiple other causes, increased use of transplant medications7-10 and other drugs11-17 has become a major etiology for this morphologic deviation.Because of the conventional concept that PPHA is a morphologic marker for myelodysplasia [docslide.com.br]

Some patients with HEM skeletal dysplasia have neutrophils with features of PHA, and some patients with PHA have mild skeletal anomalies. [7, 15, 16] Epidemiology Frequency United States The prevalence rate in the United States is estimated as 1 case [emedicine.medscape.com]

Some patients with HEM skeletal dysplasia have neutrophils with features of PHA, and some patients with PHA have mild skeletal anomalies. [6, 15, 16] Epidemiology Frequency United States The prevalence rate in the United States is estimated as 1 case [emedicine.com]

The Pelger Anomaly: Genetic, Cytologic and Epidemiologic Aspects of Some Data from Sweden. Thesis, Uppsala Univ. (1963). 14 Skendzel, L.P. & Hoffman, G.C. The Pelger anomaly of leukocytes: forty-one cases in seven families. Am. J. Clin. [doi.org]

In this review, we give an overview of the main pathophysiological, clinical, morphological and functional aspects of PHA. Furthermore, we highlight the importance of a comprehensive approach to the assessment of this laminopathy. [ncbi.nlm.nih.gov]

Pathophysiology Genome-wide analysis of individuals with PHA from the Gelenau region of Germany was used to identify the affected gene in humans as the LBR gene, located on subband 1q42.1. [5, 6] The LBR gene product is essential for maintaining nuclear [emedicine.medscape.com]

[…] disorder. [2] Distinguishing this benign autosomal dominant disorder from acquired or pseudo–Pelger-Huët anomaly, which can be observed in individuals with myeloid leukemia, myelodysplasia, and bi-lineage acute lymphocytic leukemia, is important. [3] Pathophysiology [emedicine.com]

Cyclosporine and methotrexate were administered to prevent graft-versus-host disease (GVHD). However, grade III acute GVHD developed on day 44, which was successfully treated with methylprednisolone and tacrolimus. [ncbi.nlm.nih.gov]

Prevention - Pelger-Huet anomaly Not supplied. Diagnosis - Pelger-Huet anomaly Not supplied. Prognosis - Pelger-Huet anomaly The \'prognosis\' of Pelger-Huet anomaly usually refers to the likely outcome of Pelger-Huet anomaly. [checkorphan.org]

The recognition of this leukocyte anomaly, mainly in patients without infection and presenting great number of not segmented neutrophils, can prevent wrong interpretations of the blood cells count and unnecessary clinical and therapeutically behaviors [repositorio.unesp.br]

In some of these conditions, especially the drug-induced cases, it is important to differentiate between Pelger–Huët anomaly and pseudo-Pelger–Huët to prevent the need for further unnecessary testing for cancer. [en.wikipedia.org]