Pachydermoperiostosis: a case report

Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually over the years prior to disease stabilization. Two genes are reported to be associated with PHO – HPGD and SLCO2A1. These genes are involved in prostaglandin E2 metabolism. We present a description of a 19-year-old patient with PHO. We found two mutations in the SLCO2A1 gene: p.Gly183Ar (chr3:133673888, NM_005630.2:c.547G>A) and p.Cys444Gly (chr3:133664070, NM_005630.2:c.1330T>G) through molecular genetic analysis. The mutation (p.Cys444Gly) has never been recorded in previous studies. This work expands our knowledge of the mutation spectrum of PHO, which will facilitate faster genetic diagnosis and interpretation of genetic information in prenatal diagnosis and genetic counseling.

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Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

Cytogenetic and Genome Research ◽

10.1159/000500988 ◽

2019 ◽

Vol 158 (3) ◽

pp. 126-132

Author(s):

Murat Torgutalp ◽

Ceren D. Durmaz ◽

Halil G. Karabulut ◽

Wenke Seifert ◽

Denise Horn ◽

...

Keyword(s):

Autosomal Recessive ◽

Periosteal Reaction ◽

Homozygous Mutation ◽

Hypertrophic Osteoarthropathy ◽

Imaging Findings ◽

Primary Hypertrophic Osteoarthropathy ◽

Digital Clubbing ◽

Autosomal Recessive Condition ◽

Homozygous Mutations ◽

Hands And Feet

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34.1 or the SLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, MRI, and ultrasonographic features of the case. These clinical and imaging findings were compatible with the diagnosis of PHO, and a novel homozygous mutation, c.576C>G, p.Ile192Met, was found in SLCO2A1.

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A new slipper lobster of the genus Petrarctus Holthuis, 2002 (Crustacea, Decapoda, Scyllaridae) from Southwest coast of India

Zootaxa ◽

10.11646/zootaxa.4329.5.5 ◽

2017 ◽

Vol 4329 (5) ◽

pp. 477 ◽

Cited By ~ 3

Author(s):

CHIEN-HUI YANG ◽

APPUKUTTANNAIR BIJU KUMAR ◽

TIN-YAM CHAN

Keyword(s):

New Species ◽

Deep Sea ◽

Genetic Information ◽

Anterior Part ◽

Molecular Genetic ◽

Taxonomic Status ◽

Molecular Genetic Analysis ◽

Andaman Sea ◽

Abdominal Somite ◽

A New Species

A new species of slipper lobster of the genus Petrarctus Holthuis, 2002 was discovered from southwestern India during a survey of deep sea crustaceans. The new species closely resembles P. veliger Holthuis, 2002 from the Andaman Sea and western Pacific but differs mainly in the color marking on abdominal somite I, having a relatively lower cardiac tooth but with better developed tubercles on the abdomen, as well as a differently shaped anterior part of the thoracic sternum. Molecular genetic analysis also confirms the distinct taxonomic status of the new species. To fix the identity of the type species of the genus, a neotype of P. rugosus (H. Milne Edwards, 1837) was selected from a recently collected Indian specimen with color and genetic information.

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Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations

Experimental Dermatology ◽

10.1111/j.1600-0625.2011.01248.x ◽

2011 ◽

Vol 20 (6) ◽

pp. 531-533 ◽

Cited By ~ 32

Author(s):

Carsten Bergmann ◽

Marion Wobser ◽

Henner Morbach ◽

Albrecht Falkenbach ◽

Dietrich Wittenhagen ◽

...

Keyword(s):

Hypertrophic Osteoarthropathy ◽

Loss Of Function ◽

Primary Hypertrophic Osteoarthropathy ◽

Digital Clubbing

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Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing

Journal of Investigative Dermatology ◽

10.1038/jid.2012.146 ◽

2012 ◽

Vol 132 (10) ◽

pp. 2473-2476 ◽

Cited By ~ 22

Author(s):

Jutta Busch ◽

Valeska Frank ◽

Nadine Bachmann ◽

Atoshi Otsuka ◽

Vinzenz Oji ◽

...

Keyword(s):

Hypertrophic Osteoarthropathy ◽

Primary Hypertrophic Osteoarthropathy ◽

Digital Clubbing

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The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation

Endocrine Connections ◽

10.1530/ec-19-0149 ◽

2019 ◽

Vol 8 (6) ◽

pp. 736-744

Author(s):

Qianqian Pang ◽

Yuping Xu ◽

Xuan Qi ◽

Yan Jiang ◽

Ou Wang ◽

...

Keyword(s):

Soft Tissue ◽

Soft Tissue Tumor ◽

Hypertrophic Osteoarthropathy ◽

Breast Cancers ◽

Loss Of Function ◽

Primary Hypertrophic Osteoarthropathy ◽

Suppressor Activity ◽

Digital Clubbing ◽

Tissue Tumor ◽

First Case

Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic multi-organic disease characterized by digital clubbing, periostosis and pachydermia. Two genes, HPGD and SLCO2A1, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH) and prostaglandin transporter (PGT), respectively, have been reported to be related to PHO. Deficiency of aforementioned two genes leads to failure of prostaglandin E2 (PGE2) degradation and thereby elevated levels of PGE2. PGE2 plays an important role in tumorigenesis. Studies revealed a tumor suppressor activity of 15-PGDH in tumors, such as lung, bladder and breast cancers. However, to date, no HPGD-mutated PHO patients presenting concomitant tumor has been documented. In the present study, we reported the first case of HPGD-mutated PHO patient with soft tissue giant tumors at lower legs and evaluated the efficacy of selective COX-2 inhibitor (etoricoxib) treatment in the patient. Methods In this study, we summarized the clinical data, collected the serum and urine samples for biochemical test and analyzed the HPGD gene in our patient. Results A common HPGD mutation c.310_311delCT was identified in the patient. In addition to typical clinical features (digital clubbing, periostosis and pachydermia), the patient demonstrated a new clinical manifestation, a giant soft tissue tumor on the left lower leg which has not been reported in HPGD-mutated PHO patient before. After 6-month treatment with etoricoxib, the patient showed decreased PGE2 levels and improved PHO-related symptoms. Though the soft tissue tumor persisted, it seemed to be controlled under the etoricoxib treatment. Conclusion This finding expanded the clinical spectrum of PHO and provided unique insights into the HPGD-mutated PHO.

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Pachydermoperiostosis (PDP): A Case Report

10.47260/jams/1021 ◽

2021 ◽

pp. 1-8

Author(s):

Abdulameer M. Abu Nailah ◽

Islam A. M. Abu-Nayla ◽

Umniyah A. M. Abu-Nayla

Keyword(s):

Case Report ◽

Hypertrophic Osteoarthropathy ◽

Primary Hypertrophic Osteoarthropathy ◽

Digital Clubbing ◽

Cutis Verticis Gyrata ◽

Incomplete Form ◽

Bone Abnormalities ◽

Primary Form

Abstract Pachydermoperiostosis (PDP) is the primary form of hypertrophic osteoarthropathy which accounts for 5% of all cases of the disorder. It is a rare hereditary disorder that is associated with digital clubbing, polyarthritis, cutis verticis gyrata, Seborrhea, eyelid ptosis, and hyperhidrosis. In this case report, we discussed a case of an incomplete form of primary hypertrophic osteoarthropathy characterised by evidence of bone abnormalities without pachydermia. Keywords: Pachydermoperiostosis, hypertrophic osteoarthropathy, periostosis.

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Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease

Cardiology in the Young ◽

10.1017/s1047951102000677 ◽

2002 ◽

Vol 12 (3) ◽

pp. 304-307 ◽

Cited By ~ 11

Author(s):

Solomon E. Levin ◽

Jeffrey R. Harrisberg ◽

Kenny Govendrageloo

Keyword(s):

Ventricular Septal Defect ◽

Cardiac Disease ◽

Septal Defect ◽

Hypertrophic Osteoarthropathy ◽

Primary Hypertrophic Osteoarthropathy ◽

Digital Clubbing ◽

The Third ◽

Congenital Cardiac Disease ◽

Delayed Closure

It is rare to find congenital cardiac disease in association with familial primary hypertrophic osteoarthropathy. We have now encountered three siblings, two of whom had digital clubbing, patent arterial ducts and delayed closure of the cranial fontanels. The third infant was unusual in that there was no clubbing, or cranial abnormality, despite a small ventricular septal defect. To the best of our knowledge, this association has not previously been observed.

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IDENTIFICATION OF A PERSON BY THE DNA OF THE PULP OF THE TOOTH

Kuban Scientific Medical Bulletin ◽

10.25207/1608-6228-2018-25-6-154-159 ◽

2018 ◽

Vol 25 (6) ◽

pp. 154-159

Author(s):

S. V. Syrak ◽

I. A. Gatilo ◽

Yu. S. Mazevskaya

Keyword(s):

Genetic Analysis ◽

Genetic Information ◽

High Probability ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Tooth Pulp ◽

Bone Powder ◽

Tooth Number ◽

Genetic Examination ◽

Relationship Of

Aim. The study was designed for conducting a molecular genetic analysis of DNA of the tooth pulp and establishing the genetic relationship of the child and the parent.Materials and methods. The tooth number 16 of the claimed father was provided for the DNA extraction. Saliva samples and DNA preparations of the prospective daughter were obtained for the study. In the course of the research, the M-sorbbone reagent kit was used to isolate DNA from the bone powder.Results. The conducted studies have shown that the DNA preparations isolated from a tooth and the N sample of saliva have the following genotypic allelic combinations. It was established that for each of the studied STP systems in the genome of the claimed father an allele is found, which formally coincides with the allele of conditionally paternal (nonmaternal) origin in the child’s genome.Conclusion. As shown by the results of the study, the only carrier of DNA in a forensic medical molecular genetic examination, in this case, was a tooth, namely, pulp, which was protected by the durable tissues – dentin and enamel. The uniqueness of this case lies in the fact that it is the pulp that is the only tissue that retains the genetic information making it possible to state the high probability of the claimed relationship of the father and the child.

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Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin

Czech and Slovak Ophthalmology ◽

10.31348/2019/5/5 ◽

2019 ◽

Vol 75 (5) ◽

pp. 272-276

Author(s):

Lucia Hlavatá ◽

Ľubica Ďuďáková ◽

Jana Moravíková ◽

Anna Zobanová ◽

Bohdan Kousal ◽

...

Keyword(s):

Genetic Analysis ◽

Structural Changes ◽

Molecular Genetic ◽

Genetic Diagnosis ◽

Molecular Genetic Analysis ◽

Clinical Findings ◽

Gene Therapies ◽

Pathogenic Variants ◽

The Right ◽

First Time

Introduction: Achromatopsia is an autosomal recessive retinal disorder with an estimated prevalence ranging from 1 in 30.000 to 50.000. The disease is caused by mutations in six different genes. The aim of the study was to perform molecular genetic analysis in 11 unrelated probands with a clinical diagnosis of achromatopsia and to describe clinical findings in those that were found to carry biallelic pathogenic mutations. Methods: All probands and their parents underwent ophthalmic examination. Mutation detection was performed using Sanger sequencing of CNGB3 exons 6, 7, 9-13, which have been found to harbour most diseasecausing mutations in patients with achromatopsia of European origin. Results: Three known pathogenic variants in CNGB3 were identified in 2 probands. Proband 1 was a compound heterozygote for the c.819_826del; p.(Arg274Valfs*13) and c.1006G>T; p.(Glu336*). Proband 2 carried the c.1148del; p.(Thr383Ilefs*13) in a homozygous state. The best corrected visual acuity in proband 1 (aged 19 years) was 0.1 in both eyes, in proband 2 (aged 8 years) 0.05 in the right eye and 0.1 in the left eye. Both individuals had nystagmus, photophobia, and absence of colour discrimination. Fundus examination appeared normal however spectral-domain optical coherence tomography revealed subtle bilaterally symmetrical structural changes in the fovea. Conclusion: Molecular genetic analysis of Czech patients with achromatopsia was performed for the first time. Identification of diseasecausing mutations in achromatopsia is important for establishing an early diagnosis, participation in clinical trials assessing gene therapies and may be also used for preimplantation genetic diagnosis.

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