Assuntos
Osteoartropatia Hipertrófica Primária , Osteoartropatia Hipertrófica Secundária , Síndrome de Pancoast , Humanos , Osteoartropatia Hipertrófica Secundária/diagnóstico , Osteoartropatia Hipertrófica Secundária/etiologia , Síndrome de Pancoast/complicações , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/diagnósticoRESUMO
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).
Assuntos
Perda Auditiva , Osteoartropatia Hipertrófica Primária , Adulto , Artralgia , Face , Humanos , Masculino , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/diagnóstico , Pele , Adulto JovemRESUMO
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.
Assuntos
Osteoartropatia Hipertrófica Primária , Adulto , Imagem de Difusão por Ressonância Magnética/métodos , Humanos , Masculino , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/diagnóstico por imagem , Imagem Corporal Total/métodos , Adulto JovemRESUMO
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.
Assuntos
Cegueira/etiologia , Córnea/patologia , Ceratoconjuntivite/diagnóstico , Osteoartropatia Hipertrófica Primária/complicações , Adulto , Cegueira/diagnóstico , Humanos , Ceratoconjuntivite/complicações , Masculino , Índice de Gravidade de Doença , Microscopia com Lâmpada de FendaRESUMO
Hypertrophic osteoarthropathy (HOA) is an orphan syndrome characterized by abnormal proliferation of the skin and osseous tissues at the distal parts of the extremities. The main clinical features are: a peculiar bulbous deformity of the tips of the digits conventionally described as "clubbing," periosteal proliferation of the tubular bones, and synovial effusions. In most instances, HOA develops a reaction to a severe internal illness, such as lung cancer, cyanotic heart disease, or liver cirrhosis. There is a subgroup of patients who do not have underlying pathology. Such cases are classified as having primary HOA. Digital clubbing is easy to recognize. Any patient with newly developed digital clubbing should undergo careful search for an underlying illness with special attention to intra-thoracic pathologies. Painful HOA is treated with non-steroidal anti-inflammatory medications. Vascular endothelial growth factor and prostaglandin E2 have been proposed as key bone proliferating mediators.
Assuntos
Osteoartropatia Hipertrófica Primária , Osteoartropatia Hipertrófica Secundária , Osso e Ossos , Humanos , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/diagnóstico , Osteoartropatia Hipertrófica Secundária/diagnóstico , Osteoartropatia Hipertrófica Secundária/etiologia , Fator A de Crescimento do Endotélio VascularRESUMO
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.
Assuntos
Síndrome de Bartter/genética , Hipopotassemia/genética , Mutação de Sentido Incorreto , Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária/genética , Adulto , Povo Asiático/genética , Síndrome de Bartter/complicações , China , Análise Mutacional de DNA , Família , Heterozigoto , Humanos , Hipopotassemia/etiologia , Masculino , Osteoartropatia Hipertrófica Primária/complicações , LinhagemAssuntos
Bortezomib/uso terapêutico , Oftalmopatia de Graves/diagnóstico , Mixedema/diagnóstico , Mixedema/tratamento farmacológico , Osteoartropatia Hipertrófica Primária/diagnóstico , Estrabismo/cirurgia , Adulto , Seguimentos , Oftalmopatia de Graves/complicações , Oftalmopatia de Graves/terapia , Humanos , Dermatoses da Perna/complicações , Dermatoses da Perna/diagnóstico , Dermatoses da Perna/tratamento farmacológico , Masculino , Mixedema/complicações , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/terapia , Doenças Raras , Medição de Risco , Estrabismo/complicações , Estrabismo/diagnóstico , Tireotropina/sangue , Resultado do TratamentoRESUMO
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.
Assuntos
Cistos do Sistema Nervoso Central/complicações , Coloboma/complicações , Microftalmia/complicações , Osteoartropatia Hipertrófica Primária/complicações , Adeno-Hipófise/patologia , Neoplasias Hipofisárias/complicações , Pré-Escolar , Coristoma/patologia , Humanos , MasculinoRESUMO
BACKGROUND: Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a hereditary disease caused by mutations in the SLCO2A1 gene and characterized by multiple small intestinal ulcers of nonspecific histology. SLCO2A1 is also a causal gene of primary hypertrophic osteoarthropathy (PHO). However, little is known about the clinical features of CEAS or PHO. METHODS: Sixty-five Japanese patients recruited by a nationwide survey of CEAS during 2012-2016 were enrolled in this present study. We reviewed the clinical information of the genetically confirmed CEAS patients. RESULTS: We identified recessive SLCO2A1 mutations at 11 sites in 46 patients. Among the 46 patients genetically confirmed as CEAS, 13 were men and 33 were women. The median age at disease onset was 16.5 years, and parental consanguinity was present in 13 patients (28%). Anemia was present in 45 patients (98%), while a single patient experienced gross hematochezia. All patients showed relatively low inflammatory markers in blood tests (median CRP 0.20 mg/dl). The most frequently involved gastrointestinal site was the ileum (98%), although no patient had mucosal injuries in the terminal ileum. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO. CONCLUSIONS: The clinical features of CEAS are distinct from those of Crohn's disease. Genetic analysis of the SLCO2A1 gene is therefore recommended in patients clinically suspected of having CEAS.
Assuntos
Enteropatias/diagnóstico , Enteropatias/genética , Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária/complicações , Úlcera/diagnóstico , Úlcera/genética , Adolescente , Adulto , Idade de Início , Idoso , Anemia/complicações , Proteína C-Reativa/metabolismo , Criança , Pré-Escolar , Doença Crônica , Consanguinidade , Doença de Crohn/diagnóstico , Diagnóstico Diferencial , Feminino , Testes Genéticos , Humanos , Lactente , Enteropatias/sangue , Enteropatias/complicações , Intestino Delgado , Mutação com Perda de Função , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Gastropatias/sangue , Gastropatias/complicações , Gastropatias/diagnóstico , Gastropatias/genética , Úlcera/sangue , Úlcera/complicações , Adulto JovemRESUMO
Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente-Gole syndrome, is a rare process, frequently inherited. In its complete form it is characterized by pachydermia (thickening of the skin), skeletal changes (periostosis) and acropachia (digital clubbing). Diagnosis can be made considering the typical clinical features and the histological feature. We report a patient of 25-year old man presented with joint pain involving in multiple joints for last 7 years and progressive enlargement of his hands and feet with profuse sweating of palms and soles for last 4 years. Physical examination revealed thickened skin with excessive furrowing of his forehead, dropping of both eyelids, clubbing of all fingers, toes and enlargement of his hands and feet with pamoplantar hyperhidrosis. Laboratory investigation shows raised CRP, X-ray feet lateral view showed normal heel pad thickness, new bone formation and periosteal elevation in lower end of tibia and fibula and skin biopsy showed dense fibrocollagenous tissue in dermis and subcutis and mild acanthosis. With this scenario he was diagnosed as primary hypertrophic osteoarthropathy (Pachydermoperiostosis). After diagnosis he was treated with cholchicine (0.6mg) twice daily, naproxen (500mg) twice daily, and risedronate (150mg) monthly. After one year his skin texture became less thickened, joint pain improved, there was no further enlargement of acral part of fore arm. In this report we review the characteristic features of this syndrome. We highlight the importance of ruling out secondary forms of hypertrophic osteoarthropathy and of a close follow-up of these patients because of complications that might develop on long-term. Although no treatment was satisfactory, we wanted to emphasize that NSAIDs, Cholchicine and risedronate could be an effective treatment option.
Assuntos
Artrite , Osteoartropatia Hipertrófica Primária , Osteoartropatia Hipertrófica Secundária , Adulto , Artrite/etiologia , Humanos , Masculino , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/diagnóstico , Osteoartropatia Hipertrófica Secundária/complicações , Osteoartropatia Hipertrófica Secundária/diagnóstico , Pele/patologia , SíndromeRESUMO
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.
Assuntos
Blefaroplastia/métodos , Pálpebras/patologia , Adulto , Biópsia , Blefaroptose/etiologia , Blefaroptose/cirurgia , Pálpebras/cirurgia , Humanos , Hiperplasia , Masculino , Pessoa de Meia-Idade , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/diagnósticoAssuntos
Hematopoese Extramedular/genética , Laminectomia/métodos , Osteoartropatia Hipertrófica Primária/diagnóstico , Mielofibrose Primária/diagnóstico , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/cirurgia , Adulto , Descompressão Cirúrgica/métodos , Seguimentos , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/terapia , Prednisona/uso terapêutico , Mielofibrose Primária/complicações , Mielofibrose Primária/terapia , Doenças Raras , Medição de Risco , Índice de Gravidade de Doença , Compressão da Medula Espinal/complicações , Resultado do TratamentoRESUMO
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.
Assuntos
Carboxihemoglobina/análise , Osteoartropatia Hipertrófica Primária/complicações , Oximetria/instrumentação , Adolescente , Gasometria/métodos , Fibrose Cística/sangue , Fibrose Cística/complicações , Humanos , Masculino , Osteoartropatia Hipertrófica Primária/sangue , Tentativa de SuicídioRESUMO
Pachydermoperiostosis (PDP) is a multisystem disorder of mesenchymal origin. It is a form of hypertrophic osteoarthropathy. The typical clinical features include pachydermia, cutis verticus gyrata, digital clubbing, and periostosis. Patients present with mechanical ptosis resulting from markedly thickened eye lids. Floppy eye lids have rarely been reported in association with PDP. We describe a rare case of PDP associated with ptosis and floppy eye lids in an adult male. Meibomian gland dysfunction was documented by meibography. The patient underwent bilateral upper lid wedge resection, lateral tarsal strip, tarsectomy and external levator advancement with good cosmetic outcome following surgery.
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Blefaroptose/etiologia , Pálpebras/patologia , Osteoartropatia Hipertrófica Primária/complicações , Adulto , Biópsia , Blefaroptose/cirurgia , Pálpebras/cirurgia , Humanos , Masculino , Glândulas Tarsais/diagnóstico por imagem , Doenças RarasRESUMO
No disponible
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Adolescente , Humanos , Masculino , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/cirurgia , Osteoartropatia Hipertrófica Primária , Tuberculose Pulmonar/complicações , Tuberculose Pulmonar , Bronquiectasia/complicações , Bronquiectasia/fisiopatologia , Bronquiectasia , Imageamento por Ressonância Magnética/métodos , Tomografia por Raios X , Tomografia Computadorizada de Emissão , Ossos do Carpo/patologia , Ossos do CarpoRESUMO
Pachydermoperiostosis or the Touraine-Soulente-Golé syndrome is a rare monogenetic disorder characterized by pachydermia, periostosis and digital clubbing accounts for approximately 3â¼5% 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.
Assuntos
Osteoartropatia Hipertrófica Primária/complicações , Neoplasias da Bexiga Urinária/complicações , Adulto , Humanos , Masculino , Osteoartropatia Hipertrófica Primária/diagnóstico por imagem , RadiografiaRESUMO
Pachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies between clinical reports, and a systematic multiple-case clinicopathological correlative analysis has not been performed to date. In the present study, we reviewed the skin biopsy specimens obtained from the pachydermia of six pachydermoperiostosis patients. The severity of the characteristic histological features was semiquantitatively evaluated and correlated with the grade of pachydermia. Dermal edema, mucin deposition and elastic fiber degeneration were observed in all cases. Patients with severe pachydermia had sebaceous gland hyperplasia and fibrosis. These results suggest that the triad of mucin deposition, dermal edema and elastic fiber degeneration are found from very early stage pachydermia, and could be considered diagnostic findings. To ensure an earlier diagnosis of pachydermoperiostosis, a biopsy should be taken when a patient has grade 1 pachydermia to determine the presence of this histological triad.