Osteoartropatia hipertrófica primária (paquidermoperiostose): relato de casos em dois irmãos

Carvalho, Tarcísio Nunes; Araujo, Cyrillo; Filho, Sérgio Roberto Fraguas; Costa, Marlos Augusto Bittencourt; Teixeira, Kim-Ir-Sen Santos; Ximenes, Carlos Alberto

doi:10.1590/s0100-39842004000200014

Cited by 6 publications

(8 citation statements)

References 4 publications

(4 reference statements)

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“…Thirty‐one of 68 pedigrees (45.6%) lacked vertical transmission, having two or more affected sibs with healthy parents (30 families), while a single pedigree [no. 8 in Rimoin (1965)] showed two double consanguineous affected second cousins (7, 14–16, 18, 22, 36, 38, 40, 43, 44, 49, 56–65). For each pedigree, the number of affected sibs ranged from two to four.…”

Section: Literature Datamentioning

confidence: 99%

“…In order to estimate the likelihood of an autosomal recessive mutation in sibships with unaffected parents, a chi‐square test was performed using truncate ascertainment and assuming the proband method to correct for bias, because probands were ascertained only once, families were selected through probands and there was only one proband per family (66). This analysis was limited to the 12 sibships whose number of unaffected and affected individuals was clearly defined in the original description (14–16, 18, 36, 40, 44, 46, 56, 57, 60, 65). The remaining 18 families were excluded due to incomplete pedigree data.…”

Section: Literature Datamentioning

confidence: 99%

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Pachydermoperiostosis: an update

et al. 2005

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Pachydermoperiostosis (PDP) is a rare genodermatosis, characterized by pachydermia, digital clubbing, periostosis and an excess of affected males. Although an autosomal dominant model with incomplete penetrance and variable expression has been proved, both autosomal recessive and X-linked inheritance have been suggested. However, at present, genetic heterogeneity is not fully supported. The aim of this study is to review the clinical and pedigree data of 68 published PDP families, including 204 patients. This analysis has confirmed an autosomal dominant mutation in 37 families and suggested the existence of an autosomal recessive form in the remaining families. The two forms may differ in clinical severity, intrafamilial variability and prevalence of some features. Additionally, the marked skewed sex ratio could not be easily explained by an X-linked mutation, but alternative explanations (i.e. testosterone promoting proliferation) are discussed.

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Section: Literature Datamentioning

confidence: 99%

Section: Literature Datamentioning

confidence: 99%

Pachydermoperiostosis: an update

et al. 2005

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“…Tourine et al (1935) characterised the condition as a distinct syndrome and stressed its similarities with pulmonary osteoarthropathy (3) . Disease onset has a bimodal distribution with a peak in the first year of life and another at 15 years, coinciding with the period of rapid growth during puberty; it then progresses gradually over the next 5-20 years and eventually stabilises (5) .…”

Section: Discussionmentioning

confidence: 99%

“…It is associated with pain, polyarthritis, coarse facial features, "cutis verticis gyrata" (skin wrinkling in the face and scalp), seborrhoea, mild ptosis, hyperhidrosis, facial acne, and "elephant foot". (3,4) . The aim of this paper is to report a case of PHO with severe ptosis and describe its surgical treatment.…”

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confidence: 99%

Palpebral ptosis caused by Pachydermoperiostosis

Tavares¹,

Diniz²,

Oliveira³

et al. 2014

Revista Brasileira De Oftalmologia

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RESUMOA 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.Descritores: Blefaroptose/fisiopatologia; Blefaroptose/cirurgia; Osteoartropatia hipertrófica primária/etiologia; Relatos de casos ABSTRACT 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.

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“…É interessante observar que o paciente desconhecia a sua doença sistêmica e aceitou-a até que a ptose palpebral comprometesse as suas tarefas diárias, quando veio à Fortaleza procurar tratamento. Tal grau de acometimento oftalmológico na paquidermoperiostose não parece ser comum, visto que, na literatura nacional, os relatos de caso privilegiam os aspectos ósseos e cutâneos da doença (13)(14)(15)(16)(17)(18)(19)(20)(21) .…”

Section: Figura 2 -Aspecto Das Mãos E Baqueteamento Digitalunclassified