Dermatoglyphics and creases in patients with neurofibromatosis von recklinghausen

Vormittag, W; Weninger, M.; Raff, Manfred; Konrad, Klaus; Scheiber, V.; Neri, Giovanni

doi:10.1002/ajmg.1320250226

Cited by 13 publications

(13 citation statements)

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“…Of particular interest is the increased incidence of digital central pockets (Wcp) in NF-1 patients found by Blotevogel [1933], Biscatti et al [1973], Casey et al [1979], and Vormittag et al [1986]. Vormittag et al [1986] found that the quantitative values of fingerprint patterns in NF-1 appeared well established by statistical analysis and by the fact that both sexes and both palms were affected equally.…”

Section: Introductionmentioning

confidence: 99%

Dermatoglyphics in von Recklinghausen neurofibromatosis

et al. 1989

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We studied dermatoglyphic traits in 27 patients (12 males and 15 females) with neurofibromatosis type I (NF-1) to verify which characteristics may be considered typical of this disorder. The frequency of digital central pockets in the patients was significantly greater than in control individuals (P less than .005), but when we evaluated the sexes separately, the difference was significant only among females (P less than .002). The distribution of central pockets on the various fingers was significantly different in affected females, compared with normal controls, but only on fingers II (P less than .05), IV (P .002), and V (P less than .05). The quantitative finger tip pattern values and the total finger ridge count (TFRC) were always higher in the patients, as well as was the a-b ridge count. The latter was significantly increased only on the right hand in females (P less than .01). Among the patients, the atd angle values were increased on both hands of females and on the right hand in males, whereas both the ulnar index A'-d and the a-t' ridge counts were diminished. The frequency of high endings (5' or 5") of line A was increased in NF-1 patients on both hands. Like in previous investigations, our patients showed an increased number of secondary creases, limited to II degree according to Vormittag et al. [1986] (P less than .048). Our results only partially confirmed prior data. Therefore, we think that there is no typical dermatoglyphic pattern in NF-1 and that this parameter is not a diagnostic indicator in this disorder.

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Section: Introductionmentioning

confidence: 99%

Dermatoglyphics in von Recklinghausen neurofibromatosis

et al. 1989

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“…Assim como em estudos anteriores, encontramos um aumento na frequência de verticilos em pacientes com NF1(38%) em relação aos controles (21,62%) [20][21][22][23][24] . O aumento observado é significante para a amostra como um todo.…”

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“…Os resultados vieram dentro dos limites de significância com mais verticilo e menos presilhas ulnares em pacientes de ambos os sexos 24 . Entretanto, foi detectada uma diferença estatisticamente significante quando os pacientes do sexo masculino e feminino são analisados em separado, havendo menos presilhas ulnares em pacientes do sexo masculino e mais verticilos no sexo feminino 21 .…”

Section: A (%) L (%) W (%)unclassified

“…Os dados relativos ao aumento da frequência de presilhas ulnares em pacientes de ambos os sexos em comparação com os controles, assim como os dados sobre verticilo em pacientes do sexo masculino, estão apenas parcialmente de acordo com o que foi observado anteriormente 25 . Pacientes com NF1 apresentam um aumento da prevalência de verticilos [20][21][22][23][24] . Concluiu-se a partir daí que Entretanto, uma avaliação posterior 25 apenas confirmou parcialmente os achados relatados anteriormente.…”

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“…O diagnóstico precoce permite que o profissional de saúde possa adotar uma conduta terapêutica precisa e iniciar o aconselhamento genético para toda a família, haja vista que pode haver comprometimento de outros membros da árvore genealógica do paciente. Há estudos que relatam flutuações na distribuição de verticilos, aumentando nos dedos IV e V 20 , III e IV 21 , IV e V 22 e II e IV 24 . Nossos resultados indicam um aumento na quantidade de tipos diferentes de desenhos nos dedos IV e ao mesmo tempo uma redução do mesmo parâmetro nos dedos V. Em todos os dedos analisados parece haver uma distribuição pouco homogênea do nú-mero de tipos diferentes de desenhos.…”

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Dermatoglifia de Pacientes Portadores de Neurofibromatose Tipo 1

Coutinho

Filho

2013

RNC

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Hypothesis: Jadassohn nevus phakomatosis: A paracrinopathy with variable phenotype

Kousseff

1992

Am. J. Med. Genet.

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It has been postulated that the phakomatoses are paracrine growth regulation disorders (paracrinopathies). To determine how Jadassohn nevus phakomatosis (JNP) may fit such a pathogenetic model, a phenotype analysis of 13 propositi with JNP and a review of most reported JNP patients were done. The phenotypes of the propositi and the reviewed patients showed a great variability from a solitary congenital epidermal nevus to extensive cutaneous lesions with associated severe non-cutaneous anomalies. Review of long-term observations of JNP patients demonstrated considerable phenotypic changes within and beyond the boundaries of the nevi. The changes included a multitude of postnatal rare benign and/or malignant tumors and unusual manifestations: renal rickets, hepatomegaly, visceral cysts, vasculopathy, and even gangrene. Thus, a life-long predisposition to dysregulation of paracrine growth factors (GFs, regulatory peptides, peptide regulatory factors, and cytokines), foremost somatomedin-C (Sm-C, IGF-I), epidermal, fibroblast, platelet-derived GFs, and transforming GF-beta is implied. Laboratory evidence for the presumed GF dysregulation in the phakomatoses came from tissue culture study of patients with neurofibromatosis type 1 (NF-1). Compared to controls their "normal" skin showed ultrastructural changes of markedly increased number of melanin macroglobuli within the melanocytes. Paracrine GFs as relevant to hamartomatous growth were incriminated by radioimmunoassays of cutaneous neurofibromas showing two-fold or greater increase of Sm-C levels compared to the levels in the adjacent skin. Thus, NF-1 appears to be a paracrinopathy. JNP shows many more dynamic changes throughout the life span of the patients than NF-1. In the near future paracrinology may aid endocrinology and oncology in treating patients with disorders of these three growth mechanisms in man.

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Dermatoglyphics and creases in patients with neurofibromatosis von recklinghausen

Cited by 13 publications

References 5 publications

Dermatoglyphics in von Recklinghausen neurofibromatosis

Dermatoglyphics in von Recklinghausen neurofibromatosis

Dermatoglifia de Pacientes Portadores de Neurofibromatose Tipo 1

Hypothesis: Jadassohn nevus phakomatosis: A paracrinopathy with variable phenotype

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