11/142. Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes? The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes. ( info) |
12/142. Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. Reticulate acropigmentation of Dohi is a rare dyschromic disorder that generally has an autosomal dominant pattern of inheritance. Most of the cases have primarily been described from japan. Only a few similar cases have been described elsewhere. We describe 3 black siblings, one boy and two girls, who had progressive reticulate hyperpigmented and hypopigmented macules over the dorsa of hands and feet, which began in early childhood. There were no palmar pits or breaks of the epidermal rete ridge pattern nor was there a family history of any pigmentary skin diseases. Three skin biopsies were performed on one patient; a biopsy specimen from a hyperpigmented macule showed increased melanin in all epidermal levels tapering towards the surface, a second biopsy specimen from a hypopigmented macule showed much less melanin, but it had a similar distribution. A third specimen from a hyperpigmented macule for electron microscopy showed a moderate number of stage III and IV melanosomes in the cytoplasm of the melanocytes. To our knowledge, these patients are the first cases reported from the middle east with an autosomal recessive pattern of inheritance, confirming previous reports. ( info) |
| We experienced a 26-year-old woman in whom widespread hypopigmented macules and patches developed as the initial clinical feature of mycosis fungoides. Histopathological examination confirmed the diagnosis. The patients was treated with PUVA, and the lesion progressively disappeared within five months. ( info) |
14/142. Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype. The term cutis tricolor describes the uncommon co-existence of congenital hyper- and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6 and 11 years, with an unusual combination of three different degrees of pigmentation, one of whom had in addition, psychomotor delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured fibroblasts was negative. In contrast to the previously reported case, the two children had large streaks or patches of hyper- and hypopigmented skin lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate pigmentation. CONCLUSION: This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such association in the other confirms and further expands the clinical phenotype of cutis tricolor. ( info) |
15/142. Phylloid hypomelanosis is closely related to mosaic trisomy 13. Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, macules resembling the asymmetrical leaves of a begonia, or oblong lesions. A review of cases with documentation of cytogenetic findings showed that aberrations involving chromosome 13 were present in 5 out of 6 patients. Examination of blood lymphocytes revealed a 46, XX/47 XX, 13 or 46, XX/47, XX, der (13) mosaic in three of these cases and a karyotype 46, XX, t(13;13) in the other two cases. cytogenetic analysis of skin fibroblasts showed chromosomal mosaicism in 4 of the 5 patients. In the remaining case, a chromosome 13 translocated on 13 was found in 100% of blood lymphocytes and skin fibroblasts, suggesting that mosaicism involving chromosome 13 may have developed in the melanocyte system. In conclusion, contrasting with hypomelanosis of Ito which is a cutaneous sign of many different states of mosaicism, phylloid hypomelanosis seems to originate preponderantly from a mosaic state involving chromosome 13. Future case reports may help to delineate further the significance of this relationship. ( info) |
16/142. Leucoderma associated with flares of erythrodermic cutaneous T-cell lymphomas: four cases. The French Study Group of Cutaneous Lymphomas. We describe four patients with erythrodermic cutaneous T-cell lymphomas (two with erythrodermic mycosis fungoides, and two with sezary syndrome) who presented with extensive hypopigmented lesions that occurred during flares of their cutaneous disease. These cases must be distinguished from previously described hypopigmented mycosis fungoides where hypopigmented lesions were the sole manifestation of the lymphoma. In two cases a biopsy was performed on hypopigmented skin, showing an infiltrate of atypical lymphocytes with epidermotropism and absence of melanocytes, as in vitiligo. It is suggested that the hypopigmentation could be due to the cytotoxicity of tumour or reactional lymphocytes directed against melanocytes. ( info) |
17/142. Hypopigmented mycosis fungoides in childhood and adolescence. We present a case of purely hypopigmented mycosis fungoides of 8-years duration in an 18-year-old woman who responded readily to psoralen plus ultraviolet A (PUVA) treatment. The literature pertaining to hypopigmented mycosis fungoides is reviewed. ( info) |
18/142. Generalized cutaneous depigmentation following sulfamide-induced drug eruption. A 41-year-old male developed a generalized drug eruption following sulfamide therapy, with progressive albino-like generalized cutaneous depigmentation. Electron microscopy showed the absence of melanocytes, and clear cells with Langerhans cell characteristics were seen along the basal layer. The present case constitutes a unique reaction to sulfamides not previously reported in the literature. ( info) |
19/142. Depigmented genital extramammary Paget's disease: a possible histogenetic link to Toker's clear cells and clear cell papulosis. BACKGROUND: The histogenesis of extramammary Paget's disease (EMPD) is still controversial. Benign pagetoid cells of the nipple first described by Toker and the similar clear cells found in white maculopapules of clear cell papulosis (CCP) have been proposed to be potential precursor cells giving rise to EMPD and primary intraepidermal Paget's disease in the nipple. The observation of a rare case of depigmented EMPD provided us with a chance to examine further the interesting Toker's clear cell/CCP hypothesis. methods: We performed pathologic studies, including Fontana-Masson stain and immunostaining for AE1/AE3 and S100P, on a new case of depigmented EMPD manifesting a 4 x 3 cm hypopigmented-depigmented patch on the root of the penis. RESULTS: The lesion showed extensive intraepithelial proliferation of atypical pagetoid cells with markedly reduced epidermal melaninization but nearly normal numbers of melanocytes. The tumor cells were strongly positive for AE1/AE3 by immunostaining. Some tumor cells displayed tadpole-like morphology resembling the pagetoid cells of CCP. Such morphology was not observed in two random examples of non-depigmented genital EMPD. CONCLUSIONS: The findings of tadpole-shaped pagetoid cells and depigmentation in the present case suggest that depigmented EMPD may be histogenetically related to CCP. Depigmented EMPD should be considered in the differential diagnosis of vitiligo, depigmented mycosis fungoides and lichen sclerosus located along the milk line. ( info) |
20/142. Idiopathic leukonychia totalis and partialis in a 12-year-old patient. Leukonychia totalis and partialis are uncommon nail findings characterized by the complete or partial whitening of the nail plate. Most cases of true leukonychia are inherited. We present a rare case of a young man with persistent, progressive, acquired leukonychia totalis and partialis. ( info) |