RESUMO

Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gene that can coexist or occur independently from one another. We report two cases of PHOAR2 in Mexico with concomitant CEAS and conducted a review of the literature of the reported cases of PHOAR2 and/or CEAS to analyze the relationship between their genotype and phenotype presentation. The patients from our Institution with classical PHOAR2 phenotype and CEAS, harbored SLCO2A1 c.547G > A and c.1768del variants. We reviewed 232 cases, of which 86.6% were of Asian origin, and identified 109 different variants in SLCO2A1. Intron 7, exon 13, and exon 4 were predominantly affected. The two most common PVs were c.940 + 1G > A and c.1807C > T. We found a statistically significant association between SLCO2A1 variants located in intron 7, exons 12, and 13 and the development of CEAS. Missense variants were more frequent in isolated PHOAR2, while a greater proportion of protein-truncating variants (PTVs) were found in CEAS. Further investigation is imperative to elucidate the underlying pathophysiological mechanisms associated with CEAS, thereby facilitating the identification of effective therapeutic interventions.

Assuntos

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Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.

Assuntos

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Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES). This variant has been previously classified by our laboratory as a variant of uncertain significance (VUS). However, another patient with the same phenotype and the same homozygous variant in HPGD was subsequently reported. In reassessing the variant, the absence of this variant in the gnomAD population database, supporting computational predictions, observation in homozygosity in two probands, and specificity of the phenotype for HPGD, all provide sufficient evidence to reclassify the HPGD c.38C > A, p.Ala13Glu variant as likely pathogenic.

Assuntos

Assuntos

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RESUMEN Las acropaquias, también llamadas dedos en palillo de tambor, se presentan como un aumento de la convexidad ungueal sobre una falange distal engrosada. Su origen es multifactorial, siendo la causa más frecuente las neoplasias, aunque también puede ser idiopático. Pueden encontrarse de forma aislada o formando parte de la osteoartropatía hipertrófica. La importancia de su diagnóstico radica en la alta frecuencia de enfermedad maligna subyacente, por lo que debe ser rápido y exhaustivo. Presentamos 2 casos de pacientes con acropaquias asociados a neoplasia subyacente.

ABSTRACT Acropachy, also called clubbed fingers, presents as increased nail convexity over a thickened distal phalanx. Its origin is multifactorial, with the most frequent cause being neoplasms, although it can also be idiopathic. They can be found in isolation, or as part of hypertrophic osteoarthropathy. The importance of its diagnosis lies in the high frequency of underlying malignant pathology, so it must be rapid and comprehensive. Two cases are presented of patients with acropachy associated with underlying neoplasia.

Assuntos

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Background: Temporohyoid osteoarthropathy (THO) is a progressive disease that causes acute onset of peripheral vestibular signs with or without facial paralysis. Ankylosis of temporhyoid joint occurs which predispose to fractures of theinvolved bones and consequently causes the commonly neurological signs observed. Clinical signs vary depending on thestage of the disease and the nerves affected. Surgical treatment is advised to improve survival rates in which the ceratohyoidectomy is currently known as the most advantageous. The aim of the present study is to report a case and outcome ofa ceratohyoidectomy procedure in a Criollo mare presenting THO of the right temporohyoid joint.Case: A 17-year-old Criollo mare was referred to the Equine Clinical Hospital of the Federal University of Pelotas witha 5-day history of facial paralysis on the right side, head tilt and difficulty to chew and swallow. Auricular, palpebraland labial ptosis along with deviation of the lip and nostril to the left were observed. A corneal ulcer was also identifiedin the right eye. Complementary imaging exams (endoscopy of the guttural pouches and radiography of the head) wereperformed and showed thickening of the right stylohyoid bone confirming a diagnosis of THO. Anti-inflammatory andantibiotic therapy were administered and the corneal ulcer was treated with topical antibiotics and autologous serum. Dueto rapid deterioration of clinical signs, the mare was referred to surgery. A ceratohyoidectomty procedure was performedunder general anesthesia. In this procedure, the ceratohyoid bone was disarticulated from the ceratohyoid-basihyoid jointand removed. During the procedure, a branch of the linguofacial vein was accidentally incised causing hemorrhage, thebranch was identified and successfully ligated. Recovery was uneventful. Supportive treatment with anti-inflammatory andantibiotics was continued after surgery and ...(AU)

Assuntos

RESUMO

Background: Temporohyoid osteoarthropathy (THO) is a progressive disease that causes acute onset of peripheral vestibular signs with or without facial paralysis. Ankylosis of temporhyoid joint occurs which predispose to fractures of theinvolved bones and consequently causes the commonly neurological signs observed. Clinical signs vary depending on thestage of the disease and the nerves affected. Surgical treatment is advised to improve survival rates in which the ceratohyoidectomy is currently known as the most advantageous. The aim of the present study is to report a case and outcome ofa ceratohyoidectomy procedure in a Criollo mare presenting THO of the right temporohyoid joint.Case: A 17-year-old Criollo mare was referred to the Equine Clinical Hospital of the Federal University of Pelotas witha 5-day history of facial paralysis on the right side, head tilt and difficulty to chew and swallow. Auricular, palpebraland labial ptosis along with deviation of the lip and nostril to the left were observed. A corneal ulcer was also identifiedin the right eye. Complementary imaging exams (endoscopy of the guttural pouches and radiography of the head) wereperformed and showed thickening of the right stylohyoid bone confirming a diagnosis of THO. Anti-inflammatory andantibiotic therapy were administered and the corneal ulcer was treated with topical antibiotics and autologous serum. Dueto rapid deterioration of clinical signs, the mare was referred to surgery. A ceratohyoidectomty procedure was performedunder general anesthesia. In this procedure, the ceratohyoid bone was disarticulated from the ceratohyoid-basihyoid jointand removed. During the procedure, a branch of the linguofacial vein was accidentally incised causing hemorrhage, thebranch was identified and successfully ligated. Recovery was uneventful. Supportive treatment with anti-inflammatory andantibiotics was continued after surgery and ...

Assuntos

Assuntos

RESUMO

Abstract Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological data. A complete form of the syndrome is reported in a male patient with disease onset in adolescence, with compatible clinical and radiological findings, presenting the three cardinal findings as well as other associated manifestations, such as hyperhidrosis and acne.

Assuntos

RESUMO

Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological data. A complete form of the syndrome is reported in a male patient with disease onset in adolescence, with compatible clinical and radiological findings, presenting the three cardinal findings as well as other associated manifestations, such as hyperhidrosis and acne.

Assuntos