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Aldo Cuccia

Publications and source records attributed to Aldo Cuccia.

4 recordsLinked to original sources
PubMed2005

Global developmental delay, osteopenia and ectodermal defect: a new syndrome.

UNLABELLED: Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention, impulsiveness, and mental retardation). SETTING: Tertiary care hospital. PATIENTS: Three children (two male siblings, and one unrelated girl). METHODS: We used the results from clinical neurological evaluations; imaging and electrodiagnostic studies; metabolic and genetic tests; skin biopsies and bone mineral densitometry. All three children suffered from (A) global developmental delay, (B) osteopenia, and (C) identical skin defects. The skin ultrastructural abnormalities were abnormal keratin differentiation, consisting of hyperkeratosis and granular layer thickening; sweat gland abnormalities, consisting of focal, cytoplasmic clear changes in eccrine secretory cells; and melanocyte abnormalities, with both morphological changes (reduced number and size without evident dendritic processes), and functional changes (defects in the migration of melanosomes in the keratinocytes). These patients present a previously unrecognized syndrome. We retain useful to report this new association, to be recognized, in the next future, as a specific key-sign of a well-defined genetic defect.

Biopsy↗
PubMed2004

Acral malignant melanoma and striated palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association?

BACKGROUND: Striated palmoplantar keratoderma or Brunauer-Fohs-Siemens syndrome is a very rare, focal, nonepidermolytic palmoplantar keratoderma with autosomal inheritance. Unlike other palmoplantar keratodermas, no association with visceral or skin cancer has ever been reported. OBJECTIVE: We report a case of malignant melanoma arising in the hyperkeratotic lesions on the right heel of a patient with striated palmoplantar keratoderma. The lesion was completely excised; our patient also underwent sentinel lymph node biopsy and then was treated with high-dose interferon adjuvant therapy. METHODS: Sentinel lymph node biopsy incision was made in elliptical fashion, long enough to harvest a full-thickness skin graft to cover the wide local excision defect. The skin graft was defatted by sharp dissection. Several perforations were made in graft and it was secured in place with sutures and bolster dressing. RESULTS: At follow-up, the grafted skin showed hyperkeratotic changes but no local or systemic signs of the disease was observed. CONCLUSION: The association between striated palmoplantar keratoderma and acral melanoma is discussed.

Diagnosis, Differential↗
PubMedDate not supplied

Other uses of homologous skin grafts and skin bank bioproducts.

The main use of homologous skin grafts or grafts of related bioproducts is in the treatment of severe burns. However, various new clinical and experimental sectors, in which this type of skin substitute can be useful, have recently emerged. The main new clinical indications for skin allografts include: skin loss, surgical wounds and bullous diseases. In these fields donor skin can be used for different purposes: as a physiological biological dressing to control pain and protect deep structures such as tendons, bones, cartilage and nerves, and to promote reepithelization with a significant reduction in healing time, and as skin substitute with dermal tissue to guide repair and make it as physiological as possible. In particular, skin bank bioproducts are currently used in the treatment of several conditions such venous and arterial leg ulcers, pressure ulcers, diabetic foot ulcers, pyoderma gangrenosum, post traumatic lesions, Mohs surgery, reconstructive surgery, wound cover in critical areas, aesthetic surgery, congenital epidermolysis bullosa and Lyell's syndrome. Skin bank bioproducts have also been used for experimental indications, to study in vitro toxicology and in vitro skin biology. Recently the demonstration that de-epidermized dermis (DED) has all the characteristics of an excellent dermal substitute into which various types of cells can be introduced and made to develop, opens exciting new possibilities of research in the field of wound healing and tissue engineering. Our preliminary observations seems to indicate that CD 34+ stem cells from umbilical cord blood can survive in DED and in a few weeks populate collagen bundles. The observation of tubular structures without lumina close to collagen bundles as well as clusters of epithelioid or fibroblast-shaped cells may represent aspects of differentiation of CD 34+ stem cells. More detailed and sophisticated studies are clearly needed to answer all the questions that these initial observations pose. Anyway the 3-dimensional model proposed seems to be suitable for the study of the behaviour of peripheral CD 34+ and perhaps also other types of stem cells in 3-dimensional dermal matrix.

Humans↗