A case of pachydermoperiostosis caused by a deletion mutation in the HPGD gene / 中华皮肤科杂志

Objective To confirm a case of pachydermoperiostosis (primary hypertrophic osteoarthropathy) at the molecular level by gene sequencing.Methods Peripheral blood samples were obtained from a 26-year-old male patient with pachydermoperiostosis and his parents,and DNA was extracted from these blood samples.Polymerase chain reaction (PCR) was performed to amplify all the exons of HPGD and SLCO2A1 genes,and gene sequencing to identify gene mutations.According to sequencing results,the spatial structure of relevant proteins was predicted.Results Gene sequencing showed a homozygous frame-shifting mutation c.310_31 1delCT (p.L104AfsX3) in exon 3 of the HPGD gene in the patient.His mother was a heterozygous carrier of the mutation,but no mutation was identified in his father.The prediction of spacial structure of proteins revealed that the above gene mutation could shorten the length of the encoded peptide by about 60％.Conclusion Typical clinical manifestations and imaging findings are helpful for the primary diagnosis of pachydermoperiostosis,while mutation analysis of HPGD and SLCO2A1 genes is a main approach to its final diagnosis.

Ptose palpebral causada por Paquidermoperiostose / Palpebral ptosis caused by Pachydermoperiostosis

A paquidermoperiostose é uma síndrome caracterizada por acometimento cutâneo e ósseo, e em alguns casos ocorre comprometimento palpebral leve. É uma síndrome rara, idiopática ou hereditária, com provável herança autossômica dominante de penetrância variável. Descreve-se o caso de um paciente com ptose grave por paquidermoperiostose elucidando sua fisiopatologia e conduta cirúrgica aplicada.

Pachydermoperiostosis is a rare disorder characterized by the involvement of skin and bone, and in some cases it can have a mild adverse effect in the eyelid. Although the etiology is still unclear, idiopathic or hereditary cases, in an autossomal dominant inheritance, have been reported. This study is a case report of a patient with severe blepharoptosis due to pachydermoperiostosis, which describes the surgical procedure and the physiopathology of the condition.

Artropatía de Charcot secundaria a tabes dorsal: reporte de un caso / Charcot`s arthropathy due to tabes dorsalis: case report

El Tabes Dorsal (TD) es una enfermedad toxico degenerativa donde hay afectación de las raíces, los ganglios y los cordones posteriores de la médula espinal por la espiroqueta de la sífilis, como manifestación tardía de la enfermedad. La TD es muy rara en nuestro medio. El 5 a 10 % de los pacientes presentan una Osteoartropatía Neuropática, que afecta de forma predominante a las articulaciones de las extremidades inferiores. Se presenta el caso de un paciente masculino de 29 años de edad, con diagnóstico clínico y de laboratorio de sífilis, el cual inicia su enfermedad actual en febrero de 2003 con trastornos de la marcha, acompañado de artralgias progresivas y espasticidad en miembros inferiores. Al examen físico se encontró marcha con aumento de la base de sustentación, signo de Romberg positivo, arreflexia rotuliana y aquílea. Los estudios radiológicos de ambas rodillas muestran signos importantes de destrucción articular. Se realizó una Artroplastia Total de Rodilla (ATR) izquierda. La ATR se puede ofrecer a un selecto grupo de pacientes con OAN en estadíos finales

The Tabes Dorsalis (TD) are a degenerative toxic disease where there is roots, ganglia and posterior cords affectation of the spinal marrow by the syphili´s spiroquette, as delayed manifestation of the disease. TD is very rare in our means. 5 to 10% of these patients development a Neuropathic osteoarthropathy (NOA), that affects the joints of the lower extremities. We present the case of a 29 years old masculine patient, with clinical and laboratory diagnosis of syphilis, which initiates his disease in February 2003 with march upheavals, accompanied by progressive arthralgias and lower limbs spasticity. To the initial physical examination, there was march with sustenation base increased, lower extremity osteotendonous areflexia and positive Romberg's sign. The radiological studies of both knees show important signs of articular destruction. A left Total Knee Arthroplasty (TKA) was made. TKA can be offered to a select group of patients with NOA in final stages

Paquidermoperiostose: forma completa da síndrome / Pachydermoperiostosis: the complete form of the syndrome

A paquidermoperiostose é uma genodermatose rara, com apresentações clínicas variadas, que se apresenta com espessamento cutâneo, baqueteamento digital e periostose. Apresenta patogênese ainda incerta e acomete, principalmente, homens. Descreve-se caso de paciente com manifestações clínicas típicas e exuberantes e alterações radiológicas clássicas desta síndrome, em sua forma completa.

Pachydermoperiostosis is a rare genodermatosis with various clinical presentations that include pachydermia (thickening of the skin), finger clubbing and periostitis. Its pathogenesis is uncertain and the condition affects mainly men. This report describes the case of a patient with typical, exuberant skin manifestations and classic radiological findings of this syndrome in its complete form.

A case of primary hypertrophic osteoarthropathy with literature review / 中华风湿病学杂志

Objective To improve the understanding and diagnosis of primary hypertrophic os-teoathropathy(PHO).Methods A case of PHO was reported.The clinical data and the process of the diagno-sis and treatment was analyzed retrospectively,and the related literature were reviewed.Results The patient was a young man without family history of PHO.He had symptoms since age 16.He had clubbing fingers and toes,hypertrophic skin,joint swelling,hyperhidrosis and radiographic evidence of periostitis.Thus the disease was diagnosed as PHO.The patient was treated with NSAIDs and the symptoms relieved very quickly.Conclusion Radiographic examination should be taken in time when young males have the general characters of clubbing fingers and toes,hypertrophic skin changes.If the periostitis presents,the final diagnosis of PHO can be confirmed.

Você conhece esta síndrome? / Do you know this syndrome?

Paquidermoperiostose é genodermatose autossômica dominante rara, que afeta pele e ossos, porém sua prevalência e incidência permanecem desconhecidas. Ocorre predominantemente em homens, que também mostram fenótipo mais grave da doença. Descrevese o caso de paciente do sexo masculino, de 60 anos.

Pachydermoperiostosis is a rare autosomal dominant genodermatosis characterized by bone and cutaneous involvement, even though its prevalence and incidence are ignored. It occurs predominantly in men, which present a more serious clinical presentation. We report a case of a 60-year-old man with this disease.