ABSTRACT
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.
Subject(s)
Humans , Male , Young Adult , Osteoarthropathy, Primary Hypertrophic/pathology , Scalp Dermatoses/pathology , Erythema/pathologyABSTRACT
A paquidermoperiostose primária é uma doença rara, caracterizada por aposição excessiva do periósteo do crânio, coexistindo com espessamento da epiderme e derme (paquidermia), provocando deformidades grosseiras. Devido à diversidade de estruturas acometidas, há várias opções cirúrgicas e métodos complementares que são utilizados no tratamento das alterações faciais desses pacientes. Esse trabalho apresenta o lifting subperiosteal como uma opção de tratamento estético para a face de pacientes portadores dessa síndrome, através do relato de dois casos operados no Hospital das Clínicas da Universidade Federal de Minas Gerais.
Primary pachydermoperiostosis is a rare disease characterized by excessive skull affixing of the periosteum, coexisting with thickening of the epidermis and dermis (pachydermia), thereby causing gross deformities. Owing to the variety of affected structures, there are several surgical options and complementary methods that are used in the treatment of facial alterations in these patients. This report describes the use of subperiosteal detachment as an aesthetic treatment option for the faces of two patients with primary pachydermoperiostosis, operated at the Hospital das Clínicas of the Federal University of Minas Gerais.
Subject(s)
Humans , Male , Adult , History, 21st Century , Osteoarthropathy, Primary Hypertrophic , Periosteum , Retinoids , Case Reports , Comparative Study , Isotretinoin , Rhytidoplasty , Colchicine , Evaluation Study , Dermatologic Agents , Face , Facial Bones , Osteoarthropathy, Primary Hypertrophic/surgery , Osteoarthropathy, Primary Hypertrophic/pathology , Periosteum/abnormalities , Periosteum/surgery , Periosteum/pathology , Retinoids/therapeutic use , Isotretinoin/therapeutic use , Rhytidoplasty/methods , Colchicine/therapeutic use , Rare Diseases , Rare Diseases/surgery , Rare Diseases/pathology , Dermatologic Agents/therapeutic use , Face/surgery , Facial Bones/surgeryABSTRACT
El cutis verticis gyrata es una condición del cuero cabelludo caracterizada por pliegues convolutos y surcos profundos de piel engrosada que le confieren un aspecto cerebriforme. Puede ser congénito o adquirido y predomina en hombres. Se clasifica de acuerdo a suetiología en primario (esencial y no esencial) y secundario. En este último caso las patologíassubyacentes son diversas. Puede formar parte de varios síndromes. El tratamiento esquirúrgico y se realiza por motivos estéticos...
Subject(s)
Humans , Osteoarthropathy, Primary Hypertrophic/pathology , ScalpABSTRACT
Urticarial vasculitis is a rare clinicopathologic entity characterized by urticarial lesions that persist for more than 24 hours and histologic features of leukocytoclastic vasculitis. Patients can be divided into normocomplementemic or hypocomplementemic. The authors report the case of a healthy 49-year-old woman with a 1-year history of highly pruritic generalized cutaneous lesions and finger clubbing. Laboratory tests together with histopathologic examination allowed the diagnosis of hypocomplementemic urticarial vasculitis, chronic hepatitis C and type II mixed cryoglobulinemia. The patient started symptomatic treatment and was referred to a gastroenterologist for management of the hepatitis C, with progressive improvement of the skin condition. The development of hypocomplementemic urticarial vasculitis in the context of chronic hepatitis C is exceedingly rare and possible pathogenic mechanisms are discussed.
A vasculite urticariforme é uma entidade clinico-patológica rara caracterizada por lesões urticariformes com duração superior a 24 horas e uma vasculite leucocitoclásica na histologia. É dividida em normo e hipocomplementêmica. Os autores relatam o caso de uma mulher saudável de 49 anos, com lesões cutâneas intensamente pruriginosas e baqueteamento digital com 1 ano de evolução. O estudo efectuado permitiu efectuar os diagnósticos de vasculite urticariforme hipocomplementêmica, hepatite C crônica e crioglobulinêmia mista tipo II. A doente iniciou tratamento sintomático e foi referenciada para a Gastroenterologia para orientação da hepatite, com melhoria progressiva das lesões cutâneas. O desenvolvimento de vasculite urticariforme hipocomplementêmica no contexto de hepatite C crónica é raro e os possíveis mecanismos patogênicos são discutidos.
Subject(s)
Female , Humans , Middle Aged , Cryoglobulinemia/complications , Hepatitis C, Chronic/complications , Pruritus/pathology , Urticaria/pathology , Vasculitis, Leukocytoclastic, Cutaneous/pathology , Fingers/pathology , Osteoarthropathy, Primary Hypertrophic/pathology , Pruritus/drug therapy , Pruritus/etiology , Skin/pathology , Time Factors , Treatment Outcome , Urticaria/drug therapy , Urticaria/etiology , Vasculitis, Leukocytoclastic, Cutaneous/drug therapy , Vasculitis, Leukocytoclastic, Cutaneous/etiologyABSTRACT
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.
Subject(s)
Humans , Male , Middle Aged , Osteoarthropathy, Primary Hypertrophic , Osteoarthropathy, Primary Hypertrophic/pathology , SyndromeABSTRACT
La paquidermoperiostosis u osteoartropatía hipertrófica primaria es una rara enfermedadcaracterizada por compromiso cutáneo y osteoarticular. Comunicamos dos casos que presentabanhipocratismo digital, uñas en vidrio de reloj, agrandamiento óseo, tumefacción articular y diferentes grados deafectación cutánea, sin otros hallazgos clínicos relevantes. Ambos desconocían antecedentes familiares similares.El estudio radiográfico de las zonas comprometidas mostró periostosis. Con resultados de laboratorio yradiografía de tórax normales, y ausencia de evidencia clínica de otra enfermedad subyacente, se realizó diagnósticode osteoartropatía hipertrófica primaria.
Pachydermoperiostosis orprimary hypertrophic osteoarthropathy is a rare disease characterized by cutaneous and osteoarthicularinvolvement. We describe two patients with finger clubbing, watch crystal nails, bones thickenings,arthritis and different grades of skin affection, without other clinical manifestations. Both did not know of havingrelatives with the same alterations. Radiological studies of the affected areas showed periostosis. Because ofnormal laboratory results and chest radiography plus the absence of other underlying causes, diagnosis of primaryhypertrophic osteoarthropathy was made.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Osteoarthropathy, Primary Hypertrophic/pathology , Osteoarthropathy, Primary Hypertrophic/radiotherapy , Osteoarthropathy, Primary Hypertrophic/therapyABSTRACT
La paquidermoperiostosis es una rara enfermedad que clínicamente se caracteriza por presentar acropaquias y engrosamiento de manos y pies además de un engrosamiento de los pliegues de la piel de la cara. La paquidermoperiostosis pertenece al grupo de la osteoartropatía Hipertrófica. Presentamos el caso de un paciente nacido y residente en el oriente, que acudió a la consulta externa del Hospital Vozandes Quito, y hacemos una revisión de la osteoartropatía hipertrófica.
Subject(s)
Osteoarthropathy, Primary Hypertrophic/classification , Osteoarthropathy, Primary Hypertrophic/diagnosis , Osteoarthropathy, Primary Hypertrophic/epidemiology , Osteoarthropathy, Primary Hypertrophic/etiology , Osteoarthropathy, Primary Hypertrophic/pathologyABSTRACT
Paquidermoperiostose é uma síndrome caracterizada por baqueteamento dos dedos, neoformaçao perióstea em extremidades de ossos longos, além de espessamento, enrugamento e oleosidade da pele da face e couro cabeludo. Os autores descrevem um novo caso e abordam aspecto históricos, clínicos e histopatológicos da moléstia.