We report a case of a 12‐year‐old boy who was born as a collodion baby after which thick scales developed on his entire body surface. His younger brother showed a similar skin condition. Arcuate‐shaped, large, brownish scales covered his face with ectropion. His lower legs were also covered with larger thick, brownish, plate‐like scales, but other areas were covered with smaller scales. Next‐generation sequencing for exons and splice sites detected a stop‐gain TGM1 mutation leading to p.R71* in transglutaminase 1 (TG1). Another mutation identified was a cryptic mutation in intron 3 that activated a pseudoexon, which was detected by RNA‐based analysis of hair bulbs. The deep intronic mutation caused another truncation mutation, p.N171Tfs*45, in TG1. An in situ TG1 assay demonstrated that TG1 activity was totally lost in this case. Thus, we conclude that the severe phenotype of the patient developed due to those novel compound heterozygous null truncation mutations in TGM1. 相似文献
A 5-month-old girl was born with generalized erythematous skin covered with fine scales. Two days after she was born blisters started appearing over several places on the skin, resulting in multiple denudations. Later, over a period of 2–3 weeks, her skin started becoming rough, thickened, and covered with verrucous scales. The patient is the product of a full-term normal delivery, is born to nonconsanguinous parents, and had normal developmental milestones. None of her family members had had similar episodes, although her father had had verrucous linear epidermal nevus since his childhood. On examination her entire skin was erythematous, thickened, and covered with rough verrucous scales arranged in a rippled pattern (Fig. 1a), more prominent in the flexural areas. Multiple erosions and a few flaccid vesicles and bullae were seen over the trunk and extremities (Fig, 1b), and islands of normal-looking skin were seen over the recently healed erosions. Scales were less marked over the face. Mucous membranes, skin appendages, palms, and soles were not affected. The rest of her systemic examination revealed no other abnormality. Routine laboratory investigations including haemogram, Veneral Disease Research; Laboratory test (VDRL), and radiologic skeletal survey were normal. Histopathologic examination of the lesional skin and also the normal-looking skin revealed the picture of epidermolytic hyperkeratosis showing features of hyperkeratosis and hypergranulosis with prominent vacuolar degeneration of the upper epidermis extending to the middle of the stratum spinosum (Fig. 2), Dermis was normal but for a mild edema and nonspecific perivascular inflammatory infiltrate. Dermatologic evaluation of her father revealed bilateral, asymmetric, thick, warty papules, and plaques arranged in a linear pattern following the lines of Blaschko over the trunk and extremities (Fig. 3), The rest of the skin and systemic examination was normal. A skin biopsy of the verrucous plaque over the back showed typical features of epidermolytic hyperkeratosis similar to his daughter (Fig. 4), and normal histology was observed from the skin section obtained from normal-looking skin. 相似文献
We report the case of a 9‐year‐old girl with severe plaque psoriasis refractory to multiple topical and systemic therapies. Physical examination revealed extensive, erythematous plaques with overlying thick scales that covered more than 80% of her body surface area, which included the face, scalp, trunk, and limbs. Because of the severity of the disease and lack of treatment response to other systemic therapies, she was treated with ustekinumab. Three weeks after ustekinumab was initiated, her psoriatic lesions fully cleared. 相似文献
In this study, scanning electron microscopy (SEM) was used to describe in detail the surface structure of geographic tongue. Tissue samples from the anterior part of the tongue were removed from 15 patients with geographic tongue and from 15 control subjects. Normally, the surface mucosa of the tongue was covered by filiform papillae, which consisted of the body and hairs. The mucosal surface of the body was smooth with some desquamating cells, but hairs were covered by an extensive plaque of microorganism. With SEM, the surface of geographic tongue contained 3 different types of mucosa: atrophic area, white margin, and area of normal appearance. On the atrophic area, the mucosa formed low elevations, and hairs were lacking. At high magnification, the superficial cells of the low elevations were polygonal, and they had parallel or branching microplicae. The white margin contained many desquamating cells, which had broken microplicae or no surface structures. Here the inflammatory infiltrate of the epithelium and that of the subepithelial connective tissue was moderate. On the normal-appearing area, desquamation of the mucosa on the papillar bodies was more pronounced than normally. On every specimen was a fissure, on the walls of which the superficial cells had broken microplicae and knob-like structures. The adherence of candidal hyphae within the superficial cells was seen in the area of the fissure. On the geographic tongue some fungiform papillae with taste pores were seen. 相似文献
A 57‐year‐old woman was seen in our department in September 1999. At the time of our observation, she complained of fever and malaise and presented many erythematous and squamous lesions on sun‐exposed areas. On the upper third of the back ( Figs 1, 2 ), she presented a wide patch with irregular borders, due to many coalescing small purplish‐red lesions. Each lesion was covered with branny scales and, on palpation, revealed a variable degree of infiltration. Few areas of uninvolved skin could be seen inside the main patch. Beyond this main patch, small individual scattered lesions with a net‐like distribution were detected. Figure 1 Open in figure viewer PowerPoint Wide purplish‐red patch and individual scattered lesions of the upper back covered with branny scales 相似文献
Basal melanocytes were counted and atypia assessed on an arbitrary scale in punch biopsies from the sun-exposed extensor aspect of the forearm of normal skin and from the covered skin of the buttock of patients with pigmented naevi and control subjects. The difference in melanocyte counts and in the presence of atypia between sun-exposed and covered skin was statistically highly significant. The only other difference was between melanocyte counts in covered skin from those with multiple atypical naevi and all other groups; the counts in the former were greater than those in the latter. No further difference was attributable to sun exposure, skin type or diagnostic group. Some degree of melanocyte atypia was seen in approximately half of the biopsies of sun-exposed skin, but atypia was seen in only six of 84 biopsies of covered skin. In each case atypia was present in the corresponding forearm biopsy and all six subjects had pigmented lesions (four with melanoma and two with multiple atypical naevi). It seems possible that while increased melanocyte counts in covered skin could correlate with the presence of atypical naevi, atypia of covered epidermal melanocytes could possibly relate to melanoma risk. 相似文献
