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

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.

scholarly journals Pachydermoperiostosis: a case report

2017 ◽  
Vol 20 (2) ◽  
pp. 52-57
Author(s):  
Valentina A. Fursenko ◽  
Tatiana A. Grebennikova ◽  
Alexey G. Nikitin ◽  
Zhanna E. Belaya
Keyword(s):  
Genetic Disease ◽  
Genetic Information ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Molecular Genetic Analysis ◽  
Periosteal Reaction ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing ◽  
Disease Stabilization

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.

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

2011 ◽  
Vol 20 (6) ◽  
pp. 531-533 ◽  
Author(s):  
Carsten Bergmann ◽  
Marion Wobser ◽  
Henner Morbach ◽  
Albrecht Falkenbach ◽  
Dietrich Wittenhagen ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Loss Of Function ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing

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

2012 ◽  
Vol 132 (10) ◽  
pp. 2473-2476 ◽  
Author(s):  
Jutta Busch ◽  
Valeska Frank ◽  
Nadine Bachmann ◽  
Atoshi Otsuka ◽  
Vinzenz Oji ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing

A novel homozygous mutation in theSLCO2A1gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient

2015 ◽  
Vol 54 (6) ◽  
pp. e233-e235 ◽  
Author(s):  
Nedhal Ayoub ◽  
Sultan Al-Khenaizan ◽  
Haitham Sonbol ◽  
Rakan Albreakan ◽  
Mohammed AlSufyani ◽  
...  
Keyword(s):  
Homozygous Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

scholarly journals Primary hypertrophic osteoarthropathy

2020 ◽  
Vol 58 (5) ◽  
pp. 544-549
Author(s):  
E. L. Trisvetova
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
Bone Lesions ◽  
Malignant Neoplasms ◽  
Childhood And Adolescence ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
X Ray

The article presents information about a rare hereditary disease – primary hypertrophic osteoarthropathy with autosomal dominant and autosomal recessive inheritance. Genetic heterogeneity is responsible for the clinical polymorphism of symptoms that appear in childhood and adolescence. Differential diagnosis should be carried out with secondary hypertrophic osteoarthropathy, which occurs in 90% of cases and is associated with malignant neoplasms, rheumatic diseases and other diseases. X-ray signs are of great importance to clarify the localization, extent and nature of bone lesions. There is no specific treatment for the disease.

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

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.

scholarly journals Pachydermoperiostosis (PDP): A Case Report

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.

Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease

2002 ◽  
Vol 12 (3) ◽  
pp. 304-307 ◽  
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.

scholarly journals Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease

2021 ◽  
pp. 20200150
Author(s):  
Saanida M P ◽  
Lin Varghese ◽  
Rinu Susan Thomas ◽  
Sandeep Govindan Prasad
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Turkish Population ◽  
Imaging Features ◽  
Imaging Findings ◽  
Temporal Lobes ◽  
Parietal Lobes ◽  
Autosomal Recessive Condition ◽  
And Diffusion ◽  
Subcortical Cysts

Cerebral leukoencephalopathy and megalencephaly with subcortical cysts (also known as van der Knaap disease) is an autosomal recessive condition. The disease was initially described in India and Netherlands independently and seems to have highest incidence in Indian Agrawal community and Turkish population. 1 The objective of this study is to document the case of two siblings with this condition, from a non-Agrawal Indian community and briefly describe the imaging features of this condition. Two siblings, born out of a third-degree consanguineous marriage, with simple focal seizures were subjected to MRI with diffusion-weighted imaging and spectrometry. The findings were compared to diseases with similar clinical presentation. Subcortical cysts initially involving anterior temporal lobes and subsequently frontal and parietal lobes, sparing of central white mater, small N acetyl aspartate peak and diffusion facilitation were the imaging findings. The imaging findings were consistent with the diagnosis of the rare genetic disorder- Cerebral leukoencephalopathy and megalencephaly with subcortical cysts.

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