Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family.

PURPOSE: Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis and pachydermia with defects in the degradation of prostaglandin E2 (PGE2). Mutations in SLCO2A1 gene-encoding prostaglandin transporter (PGT) resulted in PHO, autosomal recessive 2 (PHOAR2). The spectrum of mutations and variable clinical complications of PHOAR2 has been delineated. In this study, we investigated a Chinese PHO family with a manifestation of Bartter-like hypokalemia. METHODS: Clinical manifestations were collected and genetic analyses were performed in the PHO family. RESULTS: The 33-year-old male proband had severe hypokalemia due to potassium loss from the kidney, while his brother had mild hypokalemia. After being treated with etoricoxib, the serum potassium level of the patient increased rapidly to the normal range which corresponded with the reduction in his serum PGE2 and PE2 metabolite (PGEM) levels. A novel SLCO2A1 compound heterozygous mutation of p.I284V and p.C459R was identified in two PHO patients in this family. CONCLUSIONS: The present findings supported that the Bartter-like hypokalemia is a new complication of PHOAR2 caused by the high level of PGE2. Etoricoxib was demonstrated to be effective for the renal hypokalemia in PHO patients.

Persistent craniopharyngeal canal, bilateral microphthalmia with colobomatous cysts, ectopic adenohypophysis with Rathke cleft cyst, and ectopic neurohypophysis: case report and review of the literature.

INTRODUCTION: Persistent craniopharyngeal canal (PCC) is a rare anomaly of the base of the skull. PCC is defined as a well-corticated osseous canal, extending from the roof of the nasopharynx to the base of the sella over the course of the sphenoid corpus. We reported a PCC case with unique associations. The magnetic resonance imaging findings are discussed. CASE PRESENTATION: We report a case of a 2-year-old boy with persistent craniopharyngeal canal, bilateral microphtalmia with large colobomatous cyst, and ectopic adenohypophysis with Rathke cleft cyst. He also has ectopic neurohypophysis and optic atrophy. CONCLUSION: The presence of orbital and optic tract malformations, craniofacial and intracranial anomalies, and tumors can accompany craniopharyngeal canals (CCs). MRI is helpful in the evaluation of PCC and associated anomalies in these patients.

Tarsal Glandular Hyperplasia in Pachydermoperiostosis and Implications for Ptosis Correction.

Pachydermoperiostosis is a rare genetic disease that causes major bone and skin changes. Severe ptosis is a prominent finding in this peculiar condition. We report here 2 patients with typical features of pachydermoperiostosis. Their tarsal plates were enlarged and infiltrated by sebaceous gland tissue. One patient also displayed diffuse intratarsal lacrimal gland hyperplasia. As far as we know, this is the first report of ectopic lacrimal tissue in pachydermoperiostosis. Tarsal and skin morphologic changes should be addressed during ptosis correction in these patients.

Inaccurate pulse CO-oximetry of carboxyhemoglobin due to digital clubbing: case report.

Newer pulse CO-oximeters provide a non-invasive and quick means of measuring oxyhemoglobin, carboxyhemoglobin and methemoglobin. Clubbing has been reported to cause inaccuracy in pulse oximeters. We present a case of inaccurate carboxy-hemoglobin measurement by pulse CO-oximetry due to digital clubbing. An 18-year-old man with a history of cystic fibrosis presented after a suicide attempt by inhalation of exhaust. At the initial emergency department evaluation, his blood carboxyhemoglobin was 33%. He was intubated, placed on 100% oxygen and transferred to our facility. Upon arrival, we placed three different pulse CO-oximeters on different fingers and toes. Carboxyhemoglobin levels measured by these meters ranged from 9%-11%. A venous blood gas drawn on arrival showed a carboxyhemoglobin level of 2.3% after four hours on 100% oxygen by endotracheal tube. Thirty minutes later, we checked arterial blood gas, which revealed a COHb level of 0.9%. Again, non-invasive carboxyhemoglobin measurements read 10%. The patient was treated with hyperbaric oxygen for carbon monoxide poisoning. This case suggests that non-invasive measurements of carboxyhemoglobin should be correlated with the clinic history and with an arterial or venous blood gas oximetry analysis.

Pachydermoperiostosis and bladder cancer.

Pachydermoperiostosis or the Touraine-Soulente-Golé syndrome is a rare monogenetic disorder characterized by pachydermia, periostosis and digital clubbing accounts for approximately 3∼5% of all patients with hypertrophic osteoarthropathy. Missense mutations in SLCO2A1 and HPGD genes could plausibly underlie the pathogenesis of pachydermoperiostosis. Patients have usually a favorable outcome with very few cases associated with cancer. Herein, we report the first case of a patient with pachydermoperiostosis associated with bladder cancer.

[Paraneoplastic syndromes and rheumatic diseases]. / Zespoly paranowotworowe a choroby reumatyczne.

Paraneoplastic syndromes, which are discussed in this paper, are a heterogeneous group of disorders associated with cancer, but not directly caused by the physical effects of the primary tumor or its metastases. May precede the appearance of the malignant process, occur simultaneously or disclose in the course of cancer. Paraneoplastic syndromes may be caused directly by toxins produced by tumor cells, occur in the course of hypersensitivity reactions, or be the result of release of intracellular antigens. Due to the often similar systemic symptoms it is very important to evaluate the association of rheumatic diseases and cancer. Most paraneoplastic rheumatologic syndroms are difficult distinguishable from idiopathic rheumatologic disorders. The most common paraneoplastic syndromes include rheumatoid arthritis (RA)-like syndrome arthritis, inflammatory myopathies, hypertrophic osteoarthropathy, vasculitis and Raynaud's phenomenon.

Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report.

Pachydermoperiostosis is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of pachydermoperiostosis with bilateral ptosis as presenting feature.

Eyelid thickening and ptosis associated with pachydermoperiostosis: a case report and review of literature.

UNLABELLED: The case of a 27-year-old Chinese patient with bilateral eyelid thickening and ptosis secondary to the rare condition of pachydermoperiostosis is presented. Surgical treatment was performed by horizontal tightening via a full-thickness wedge resection combined with levator shortening and advancement. Satisfactory aesthetic and functional results were achieved. The histopathology of eyelid tissue showed sebaceous gland hyperplasia and chronic inflammatory response. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Pachydermoperiostosis: a rare cause of marked blepharoptosis and floppy eyelid syndrome.

A 34-year-old African-American man was referred for eyelid swelling and ocular discomfort. He was found to have floppy hypertrophic eyelids and marked bilateral mechanical ptosis that was present since childhood. Systemic examination was significant for furrows on his forehead and scalp, coarse facial features, and enlarged hands and feet with clubbing of the fingers and toes. Radiographic imaging of the long bones demonstrated periostosis, and MRI of the head revealed a pituitary macroadenoma. Pituitary and thyroid hormone levels were normal. The patient was diagnosed with pachydermoperiostosis and a non-secreting pituitary macroadenoma. Bilateral upper lid tightening via wedge resection was followed by bilateral external levator advancement ptosis repair in a staged manner. The patient achieved symptom relief and improved lid position postoperatively.

Arthroscopic synovectomy and radiosynoviorthesis: a treatment option for recurrent arthritis symptoms in patients with pachydermoperiostosis.

Pachydermoperiostosis as the primary form of hypertrophic osteoarthropathy is a rare hereditary disorder with a number of characteristic findings, e.g. periosteal hypertrophy, digital clubbing and pachydermia. Further typical symptoms include arthritic manifestations in all major joints. Literature review showed that therapeutical approaches usually focus on medical therapy alleviating chronic polyarthritis by controlling inflammation. In the case presented in this report anti-inflammatory therapy appeared to have been insufficient since knee arthritis persisted. Arthroscopic synovectomy and radiosynoviorthesis were performed consecutively. Postoperative and follow-up examinations indicate that this combined therapy reduces pain, increases range of motion and improves overall mobility, and is thus of lasting benefit to the patient.

Complete form of pachydermoperiostosis: a case report.

Pachydermoperiostosis is a primary form of hypertrophic osteoarthropathy, which presents with pachydermia, digital clubbing, and radiologic periostosis. Pachydermoperiostosis occurs owing to mutations of the gene encoding for 15-hydroxyprostaglandin dehydrogenase (15HPGD). Clinical manifestations of PDP are thought to relate to excessive collagen formation and dysregulation of matrix proteins because of fibroblastic hyperactivation. We present a very rare case of the complete form of pachydermoperiostosis in a young Indian male.

Cardiac metastasis and hypertrophic osteoarthropathy in recurrent infantile fibrosarcoma.

Cardiac metastasis and hypertrophic osteoarthropathy are both quite rare. We describe a patient presenting with hypertrophic osteoarthropathy as the first symptom of recurrent infantile fibrosarcoma (IF). During surgical resection of lung metastasis, the patient suffered sudden cardiac arrest. Autopsy demonstrated a metastatic lesion in the intraventricular septum of the heart, which is previously undescribed in the literature. This case demonstrates that IF can be aggressive despite its more typical benign course.

Primary hypertrophic osteoarthropathy.

Pachydermoperiostosis PDP (idiopathic or primary hypertrophic osteoarthropathy) is a rare congenital disease that inherited in an autosomal fashion. The disease is more common in males and develops gradually from adulthood. The disease is characterized by coarse facial features, clubbing of the fingers and radiographic periostitis of the distal long bones. The patient was a 37-year-old man with acroosteolysis and digital clubbing of hands and feet fingers and lion facies.

Malignant fibrous tumor of the pleura: case report and literature review.

Solitary fibrous tumours (SFT) of the pleura are uncommon and are incidental findings or discovered in patients with non-specific respiratory symptoms. We report a case of a 74 year old man diagnosed with a mesenchymal pleural neoplasm, associated with typical hypertrophic osteoarthropathy, referred to as Pierre-Marie-Bamberg syndrome. As reported in the literature, complete surgical resection is the gold standard for treatment of such lesions and recurrences. Radiotherapy and chemotherapy are of limited value in the curative treatment of pleural SFT. In our case surgical excision of the mass was performed. After a disease-free period of 3 years a second intervention was necessary because of recurrence. Until now our patient is free of complaints and no signs of reappearance were noted. Based on our experience and on literature findings we would like to underline the importance of regular long-term follow-up because of the substantial risk of recurrence.

Pachydermoperiostosis with Hearing Loss.

A 21-year-old unmarried man, born of a non-consanguineous marriage, presented to the dermatology department with progressive thickening of the facial skin and eyelids, plus increased folds over his forehead for the last 5 months. He also complained of progressive enlargement of his hands and feet, with intermittent joint pains in his wrists, elbows, and ankles, along with occasional abdominal pain. He had a hearing loss and increased sweating. (SKINmed. 2022;20:311-313).

Whole body diffusion weighted imaging with background suppression in pachydermoperiostosis: a case report.

Hypertrophic osteoarthropathy (HOA) is a disease characterized by abnormal skin findings and bone deformities related to subperiosteal bone formation. The disease can be associated with major systemic manifestations (secondary form) or present with absent or less prominent systemic signs and symptoms (primary form). The primary form is called pachydermoperiostosis (PDP). Whole body diffusion weighted imaging with background suppression (WB-DWIBS) is a magnetic resonance imaging (MRI) technique that has been used to highlight whole body involvement in various entities by suppressing background body signals, and is commonly used in oncologic work-ups. In this paper, we present the case of a 23-year-old male presenting with normocytic anemia and coarse facial features, as well as biological anomalies, and we report the use of WB-DWIBS in establishing the patient's diagnosis of PDP.

Pachydermoperiostosis Presenting With Vision Loss Secondary to Severe Phlyctenular Keratoconjunctivitis.

PURPOSE: To report a case of severe phlyctenular keratoconjunctivitis in a patient with pachydermoperiostosis (PDP). METHODS: A 29-year-old Hispanic man presented with a 1-year history of vision loss in the right eye and redness, photophobia, and pain in both eyes. Associated symptoms included enlargement of his hands and feet for 3 years, acne, and joint pain. Examination was notable for severe meibomian gland dysfunction, corneal and limbal phlyctenules in both eyes, and central stromal scarring of the right cornea. He had cystic acne of the face and a coarse, wrinkled forehead and scalp. Examination of his hands and feet revealed clubbing of the digits. RESULTS: The patient had an extensive laboratory workup that was significant for elevated erythrocyte sediment rate and C-reactive protein. X-ray of his hands and feet revealed diffuse periosteal hyperostosis with diffuse bone expansion. The patient was diagnosed with PDP with severe meibomian gland dysfunction, phlyctenular keratoconjunctivitis, and corneal scarring. His pain and photophobia resolved with medical management of the phlyctenular keratoconjunctivitis but decreased vision in the right eye persisted because of neovascularization and scarring of the cornea. CONCLUSIONS: We report a rare case of phlyctenular keratoconjunctivitis associated with PDP. To our knowledge, this is the first case of PDP to initially present with vision loss.