Aquagenic (pseudo) keratoderma: a clinical series with new pathological insights.

BACKGROUND: Aquagenic keratoderma is an uncommon condition that occurs after brief water exposure. An association with cystic fibrosis has been suggested. Histopathology is considered to be nonspecific. OBJECTIVES: To describe the microscopic findings in seven of 12 new patients and compare the histopathological results of the lesions which appeared on the palmar skin after immersion into water with normal skin. PATIENTS AND METHODS: Nine female and three male patients (mean age 27 years) were collected prospectively and evaluated for common demographic, clinical and histopathological features. RESULTS: Lesions were located on only the palms in seven patients; the soles were involved in two patients; and one patient had involvement of the dorsal aspect of the hands. One patient had a similar family history. None of the patients reported associated conditions. Genetic studies revealed heterozygosis for mutation in the cystic fibrosis gene in two patients. The most specific histopathological findings were: orthohyperkeratosis with increased thickness and abnormal staining of the stratum corneum; dilated acrosyringia and dermal eccrine ducts with hyperplasia of eccrine glands, clear cell change and vacuolation; increased capillaries around and adjacent to the eccrine glands. A skin biopsy taken after restoration of normal skin with drying revealed a normal stratum corneum with a physiological uniform stain and normal thickness without further evidence of dilation of acrosyringia or dermal eccrine ducts. Incipient dilation of the secretory and ductal structures was also observed in a transitional area between the involved and the clinically normal skin of the palms. CONCLUSIONS: Aquagenic keratoderma may be associated with a heterozygous mutation in the cystic fibrosis gene. Although the diagnosis is a clinical one, histopathology is useful and may reveal some characteristic diagnostic clues. Aquagenic pseudokeratoderma seems to be a more appropriate term to name it.

Statistical approach in alginate membrane formulation for cell encapsulation in a GMP-based cell factory.

A cell encapsulation technology in alginate has been developed with the aim of obtaining cell controlled release or three-dimensional cultures. The aim of this work is to verify the predictability of alginate capsules for large-scale production by Good Manufacturing Practice (GMP) standardized procedures in a cell factory. A cell-free capsule model was performed following the GMP guidelines: an opaque agent suspension in a bivalent cation solution (Ca(2+), Ba(2+), Sr(2+)) was dropped in a sodium alginate solution, obtaining capsules presenting a liquid core surrounded by a gel alginate membrane. The concentration of the ion, and the treatment with protamine, can considerably vary the characteristics of the capsules (weight, whole diameter, core diameter, gel capsule thickness, capsule strength). It is therefore possible to optimize the performance of the capsules, relating the molecular structure and size of the polymeric membrane to the desired functional properties. Technological resources are available for large-scale cell encapsulation intended for advanced therapies (gene therapy, somatic cell therapy and tissue engineering) in a cell factory, following GMP guidelines.

New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers.

We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, "coarse" face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.

Acute skin manifestations of Conradi-Huenermann syndrome in a male adult.

A man displayed the acute inflammatory cutaneous manifestations and the late "incontinentia pigmenti-like" lesions of Conradi-Huenermann subgroup B of chondrodysplasia punctata. The case appears as unique in the literature in that, to our knowledge, both kinds of skin changes have been described only in newborns or early in infancy.

Richner-Hanhart syndrome spares a plantar autograft.

A patient with Richner-Hanhart syndrome had thigh skin grafted onto her heel in an attempt to improve her walking. The graft seemed to be spared by the hyperkeratosis that arrested at the periphery of the graft and formed a keratotic wall. A low-tyrosine, low-phenylalanine diet was effective in clearing hyperkeratosis.