1/26. 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 = keratosis (Clic here for more details about this article) |
2/26. Malignant acanthosis nigricans: potential role of chemotherapy.acanthosis nigricans is an uncommon skin condition characterized by hyperkeratosis and skin hyperpigmentation. Most causes are benign, but it may also be associated with gastrointestinal and other malignancies. When associated with malignant disease, the skin pathology may be more severe and treatment often unsuccessful. We describe a 66-year-old man with acanthosis nigricans associated with carcinoma of the stomach, with distressing generalized cutaneous, perioral and perineal disease, whose skin condition resolved completely with combination chemotherapy. In patients with malignant acanthosis, chemotherapy may relieve many of the distressing cutaneous symptoms. A close liaison between gastroenterologists, dermatologists and oncologists is required.- - - - - - - - - - ranking = 1keywords = keratosis (Clic here for more details about this article) |
3/26. Nevoid hyperkeratosis of the nipple and areola: treatment with topical retinoic acid.Nevoid hyperkeratosis of the nipple and areola is a rare dermatosis with unknown etiology, (Perez-Izquierdo JM, Vilata JJ, Sanchez JL, et al. Retinoic acid treatment of nipple hyperkeratosis. Arch Dermatol 1990;126:687-688). Only 40 cases have been reported until 1997 (Alpsoy E, Yilmaz E, Aykol A. Hyperkeratosis of the nipple: report of two cases. J Dermatol 1997;24:43-45). The disease has a benign course and may only be a cosmetic problem. Different modalities have been used in the treatment of NHNA. In our case treatment with topical retinoic acid induced an acceptable response.- - - - - - - - - - ranking = 7keywords = keratosis (Clic here for more details about this article) |
4/26. Atrophoderma of moulin with preceding inflammation.A 16-year-old Vietnamese man presented to the dermatology Clinic with a 10-year history of bizarre brown patches, which initially started as red asymptomatic "bumps" on the trunk, upper and lower extremities, and face. His past medical history was significant for hypothyroidism and idiopathic urticaria. He was on Eltroxin for hypothyroidism. The family history was noncontributory. physical examination revealed two types of lesion: erythematous, well-circumscribed papules in a linear configuration along with linear hyperpigmented atrophic patches following Blaschko's lines were noted on the lower extremities (Fig. 1), right upper extremity, right flank (Fig. 2), and right jawline. Initial biopsies taken from the papular lesions on the right thigh and right elbow revealed the following changes. The first biopsy showed a slightly thinned epidermis with prominent dilated blood vessels in the superficial dermis. There also appeared to be a slight increase in the amount of collagen in the deep dermis. The findings were reported as in keeping with "epithelial atrophy." The second biopsy from the lesion on the right elbow revealed an acanthotic epidermis. The granular layer was absent in several areas and there was marked overlying parakeratosis. In the dermis, there was a heavy perivascular lymphocytic infiltrate. The appearances were consistent with a psoriasiform dermatitis (Fig. 3). A biopsy taken from the left thigh approximately 18 months later showed slight irregular acanthosis with dermal edema, dilated blood vessels, and a patchy lymphocytic infiltrate. The appearances were compatible with mild inflammation.- - - - - - - - - - ranking = 1keywords = keratosis (Clic here for more details about this article) |
5/26. Familial erythromelanosis follicularis and chromosomal instability.We report a 17-year-old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC and minimal follicular papules on her shoulders and extensor surfaces of the arms. The father had only fine follicular papules, but no erythromelanosis. skin and mucous membrane lesions of the proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures of the family members, chromosomal breakage was not observed spontaneously, but it was seen with nitrogen mustard, although this disease may be of autosomal recessive inheritance. Thus, we suggest that EFFC may be a polyaetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.- - - - - - - - - - ranking = 1keywords = keratosis (Clic here for more details about this article) |
6/26. Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation.We report the first case of Dowling-Degos disease associated with squamous cell carcinomas (SCCs) in the pigmented area of Dowling-Degos disease. A 64-year-old Japanese man manifested dappled pigmentation unusually localized to the buttocks, and two pigmented adenoid SCCs had developed on his left pigmented buttock. The other findings of Dowling-Degos disease were comedone-like lesions on the face and back, a finger-like fibroma in the right popliteal fossa, dystrophic fingernails, and a large number of seborrhoeic keratosis-like lesions predominantly on the flexural areas. Another unique clinical feature was the lack of vellus hair on the whole body surface. In addition to thin branching and elongation of rete ridges with basal hyperpigmentation, immature hair follicles surrounded by fibrosis and a lace-like pattern of the hair follicle epithelia were observed histologically. These epithelial hamartomatous features were consistent with Dowling-Degos disease. We speculate that the SCCs developed in relation to an underlying naevoid anomaly in pilosebaceous epithelia of Dowling-Degos disease.- - - - - - - - - - ranking = 1keywords = keratosis (Clic here for more details about this article) |
7/26. Granular parakeratosis: four paediatric cases.Axillary granular parakeratosis (GP) was first described in 1991 as a peculiar eruption presenting with erythematous hyperpigmented and hyperkeratotic papules and plaques of the cutaneous folds frequently associated with pruritus. Histopathology shows a characteristic picture with a conspicuous granular appearance of the parakeratotic horny layer. Until now, only 24 adults, mainly women aged over 40 years, have been reported with GP. We demonstrate that this condition can also occur in young children. Four children aged between 10 and 24 months had asymptomatic hyperpigmented scaling papules 2-3 mm in diameter located on the groin, lower back, buttocks and flanks. In all cases the mothers reported the habit of frequent washing followed by application of many topical products. biopsy revealed the same features in all four patients: the epidermis showed a thickened horny layer with a unique compact parakeratosis with maintenance of the stratum granulosum and marked retention of keratohyaline granules throughout the stratum corneum.- - - - - - - - - - ranking = 6keywords = keratosis (Clic here for more details about this article) |
8/26. Kindler syndrome.Kindler syndrome is a rare genodermatosis characterized by acral bullae and photosensitivity. The photosensitivity improves with advancing age and results in progressive poikiloderma and cutaneous atrophy, and many additional features have also been described. This report describes two male Kindler syndrome patients with classical features of acral blistering and photosensitivity in childhood, and subsequent development of poikiloderma, leukokeratosis of oro-ano-genital mucosae, phimosis and meatal stenosis. The first patient had additional ophthalmic features of chronic simple conjunctivitis caused by persistent irritation, multiple stromal nebular corneal opacities and thickened corneal nerves. The second patient showed skeletal changes, namely a dome-shaped skull (turri-cephaly), bifid fourth rib, missing fifth rib, short fourth and fifth metacarpals and mandibular abnormalities. This is the first report of such ophthalmic and skeletal features of Kindler syndrome.- - - - - - - - - - ranking = 1keywords = keratosis (Clic here for more details about this article) |
9/26. dyskeratosis congenita and nasopharyngeal atresia.dyskeratosis congenita is a multisystem disorder with an increased incidence of neoplasia and opportunistic infections. A case is reported as a cause of complete nasopharyngeal atresia.- - - - - - - - - - ranking = 5keywords = keratosis (Clic here for more details about this article) |
10/26. Two cases of lichen planus pigmentosus presenting with a linear pattern.We report two cases of lichen planus pigmentosus (LPP) that developed in a unilateral linear pattern. The patients presented with unilateral linear brown macules on the extremities. skin biopsy showed orthokeratosis, basal hydropic degeneration with scarce lymphohistiocytic infiltrates, and numerous melanophages in both patients. These patients, to the best of our knowledge, are the first cases of LPP presenting with a linear pattern. LPP should be considered in the differential diagnosis of linear hyperpigmented skin lesions.- - - - - - - - - - ranking = 1keywords = keratosis (Clic here for more details about this article) |
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