1/13. epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare dermatologic disorder of autosomal dominant inheritance with intraepidermal blistering after minor trauma, reticular hyperpigmentation unrelated to the blistering, nail dystrophy, and mild palmoplantar keratosis. Keratin 5 and keratin 14 are known to be essential for the basal keratinocyte cytoskeleton and are defective in several forms of epidermolysis bullosa simplex. Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was identified in some patients with EBS-MP. We present a family with three affected members and a sporadic patient with EBS-MP. They exemplify clinically mild expression with intrafamilial variability and the possibility of improvement with time. In all of them, mutation analysis of the KRT5 gene showed the P24L mutation. So far, other mutations in the same or in other genes have not been reported in patients with EBS-MP.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/13. 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.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
3/13. Skin and nail changes in children with sickle cell anemia receiving hydroxyurea therapy.Skin and nail changes from long-term hydroxyurea therapy are reported in adults. Skin and nail changes, including nail hyperpigmentation, longitudinal bands, and hyperpigmentation of the palms and other skin surfaces, developed in 7 children with sickle cell anemia after 6 to 16 weeks of hydroxyurea therapy. Cutaneous and nail changes may occur in children receiving hydroxyurea.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/13. Generalized hyperpigmentation of the skin due to vitamin B12 deficiency.A 49-year-old man presented with neurosis, hyperpigmentation of the skin, and depigmentation of the hair. On examination, hyperpigmentation was observed on the oral mucosa and the skin of the forearms, elbows, palmar creases and periunguinal area, knees, and feet. He had megaloblastic anemia with a low serum level of vitamin B12 due to malabsorption resulting from a gastrectomy 10 years previously. His hyperpigmentation was resolved with vitamin B12 supplementation. histology showed an increase of melanin in the basal layer. In electron microscopic study, many melanosomes were observed in melanocytes and surrounding keratinocytes. We consider that the dominant mechanism of hyperpigmentation due to vitamin B12 deficiency is not a defect in melanin transport but is rather an increase in melanin synthesis.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/13. Chronic tophaceous gout presenting as hyperpigmented nodules in the limbs of a patient with coexisting psoriasis.We describe a 53-year-old male renal transplant recipient with hypertension and triglyceridemia, who showed rare manifestations of gout presenting as brownish nodules on the arms and legs as well as chronic tophaceous gouty arthritis of the hands and feet mimicking rheumatoid arthritis, in association with subsequently developed psoriasis of the palms. In elderly Asian men, hypertension and renal insufficiency may be risk factors predisposing to the development of multiple hyperpigmented nodules of tophi in the more proximal extremities.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
6/13. Atypical moles in a patient undergoing chemotherapy with oral 5-fluorouracil prodrug.We present a patient with multiple pigmented lesions on the palms, soles, oral mucosa and nails after chemotherapy with oral 5-fluorouracil (5-FU) prodrug. Dermoscopically, most of the macules showed similar features, with pigmentation present predominantly on the crista superficialis, while a large, dark macule also showed pigmentation along the sulcus superficialis with irregular hyperpigmentation and depigmentation, suggesting malignancy. However, histologically, both types of lesion showed basal hyperpigmentation and the presence of a small number of large atypical melanocytes. We diagnosed these lesions as pigment flecks induced by 5-FU, and the pigmented lesions gradually diminished after the cessation of chemotherapy. Our findings suggested that immunosuppression and 5-FU led to the development of the atypical pigmented lesions.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
7/13. The IGF system in a case of costello syndrome.costello syndrome is characterized by facial dysmorphia, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short stature, mental retardation and sociable personality. Although growth retardation is typical of costello syndrome, its cause is not defined. We report on a 10-yr-old Caucasian girl affected by costello syndrome with fasting hypoglycemia and short stature, associated low circulating levels of acid-labile subunit (ALS), relatively low levels of IGF-I and IGFBP-3, and normal IGF-II, mostly circulating in a binary complex with IGFBP-2 and -6 instead of in a 150 kDa ternary complex. The reduced ALS concentration and the consequent impaired formation of the circulating 150 kDa ternary complex can induce an accelerated clearance rate of IGF peptides and of IGFBP-3, contributing to the decreased IGF-I growth promoting activity in our patient. Moreover, the presence of IGF-II in the binary complex, which has been postulated to increase the insulin-like effects of these peptides, can explain, at least in part, the patient's asymptomatic fasting hypoglycemia.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/13. proteus syndrome.proteus syndrome is a rare hamartomatous syndrome with a variety of abnormalities. A 6-year-old Japanese boy without apparent abnormalities at birth developed by 1 year of age cerebriform skin tumors on the right sole, soft masses on the left sole, palms and fingers, brownish verrucous lesions and whorled brownish patches on the right side of the neck, chest, external genitals and extremities, hemihypertrophy of the right lower extremity, lordoscoliosis, protuberance of the skull, epileptic seizures, hydrocephalus and mental retardation. This patient appears to be the second Japanese case of proteus syndrome.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
9/13. Extensive cutaneous hyperpigmentation caused by minocycline.A 65-year-old man had cutaneous hyperpigmentation that had occurred over the previous 2 1/2 years. The hyperpigmentation was extensive and involved the sclerae, nail beds, and total body; the palms and buttocks were spared. Clinical diagnosis was suggestive of hemochromatosis or heavy metal deposition. Histologic and electron microscopic findings were consistent with lysosomal iron deposition. A careful history showed that minocycline was the cause. Its use was discontinued, and after several years the patient's pigmentation is gradually returning to normal.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
10/13. Hyperkeratosis-hyperpigmentation syndrome: a confirmative case.A 22-year-old female showing hyperpigmented spots and mild palmoplantar hyperkeratosis as leading features is presented. The diagnosis of Hyperkeratosis-hyperpigmentation syndrome, previously described by our group as an autosomal dominant trait, was unmistakable, thus permitting the corroboration of this genodermatosis.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
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