Griscelli syndrome: a case report of Reye's syndrome and atopic dermatitis history.

Griscelli syndrome (GS) is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), with the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Sixty cases of GS have been reported in the literature, but we could find no description of its oro-dental symptoms. Reye's syndrome (RS) is characterized by acute noninflammatory encephalopathy and renal and hepatic failure, while atopic dermatitis (AD) is a skin disorder with an immunologic basis. The aim of this paper is to describe the oro-dental and physical findings in a girl who had been diagnosed with GS at 3.5 years of age; she also had AD as well as a history of RS at infancy. We discuss the possible relationship between the three syndromes.

Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito.

Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1) and 16 pl3.3 (TSC2). There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child.

Anhidrosis e hipopigmentación cutánea / Anhydrosis and skin hypopigmentation

Se presentó un hombre de 26 años con anhidrosis generalizada, en el cual la histología de las glándulas sudoríparas era normal. Se comprobó que tenía además, una hipopigmentación de la piel en las zonas anhidróticas y arreflexia osteotendinosa generalizada. Las neuronas autonómicas, los melanocitos y las neuronas sensitivas de los ganglios raquídeos, comparten un mismo origen embriológico a partir de las crestas neurales. Se dedujo un proceso degenerativo de estructuras derivadas de las crestas neurales

Prognostic significance of cutaneous depigmentation in mexican patients with malignant melanoma

Background. The clinical significance of cutaneous depigmentary phenomena in patients with malignant melanoma is not clear. There are two varieties: 1) vitiligo (VIT), and 2) leukoderma acquisitum centrifugum (LAC). methods. in order to evaluate the outcome of our patients with malignant melanoma and skin depigmentation (VIT or LAC), the patients in this study with this association were retrospectively reviewen and compared with the total melanoma patients at the Oncology Hospital and the XXI Century of the Mexican Social Security Institute in Mexico City. Results. nine cases were found from 1985-1995. There were eight women and one man, their mean age was 63 years. six melanomaks were located in the foot, one in the leg, one in the anus and one in the neck. All were Clark's levels III, IV or V, and their mean tumor thickness was 5.7 mm. Four out of nine patients had regional lymp node metastasis. Six melanomas were associated with VIT and three with LAC. Three patients developed the depigmentation after chemo- or chemoinmmunotherapy. All nine patients are live (100 percent) with a mean follow-up of 55 months (9-141), eight out of nine have no evidence of tumor. Conclusion. From these data it may be concluded that the study patients with malignant melanoma and VIT or LAC have a higher-than-expected survival according to their prognostic factors. Therefore, the presence of depigmentation phenomena must be looked for intentionally