Background. Darier’s disease or keratosis follicularis is an autosomal domina nt acantholytic disorder that frequently arises as a result of spontaneous mutat ion. It is either a generalized or localized condition du...Background. Darier’s disease or keratosis follicularis is an autosomal domina nt acantholytic disorder that frequently arises as a result of spontaneous mutat ion. It is either a generalized or localized condition due to a mutation in the SERCA2 12q23q24,1 resulting in a faulty organization of the tonofilaments. We pr esent two siblings affected with the linear form of this disorder and discuss th ese cases as an example of the genetic mechanism of loss of heterozygosity. Case reports. A 7 year-old girl was referred for evaluation of linear lesions prese nt since the first year of age. Examination disclosed red, 1 to 2 mmpapulesthatc oalescedtoformlinearplaquesontheleftside of the vulvar and perianal areas, and o n the left hand and foot. Her older brother had similar lesions in a linear arra ngement on the left side of the face neck and homolateral foot. No lesions were found in their parents. Biopsies of both affected children revealed an intraepid ermal suprabasal cleft. Dyskeratotic cells were present in the spinous layer, an d corps ronds and grains near the granular layer. Discussion. The linear form of Darier’s disease could result from genetic mosaicism for this autosomal domina nt disorder. As these children have a more pronounced involvement than the usual Darier’s disease lesions, disposed in a linear arrangement, they probably repr esent a type 2 segmental manifestation of the disorder. Likewise, the presence o f the same linear disorder in two siblings could be explained by loss of heteroz ygosity for the Darier’s disease gene.展开更多
A 1-day-old male newborn was born with respiratory distress, low birth weight, hepatosplenomegaly, and bullous targetoid skin lesions over the face, back, buttocks, and extremities. A diagnosis of early congenital syp...A 1-day-old male newborn was born with respiratory distress, low birth weight, hepatosplenomegaly, and bullous targetoid skin lesions over the face, back, buttocks, and extremities. A diagnosis of early congenital syphilis was made based on a treponemal serologic test. Pathologic examination of the skin lesion showed scattered dyskeratotic cells in the epidermis and interface dermatitis consistent with erythema multiforme. No spirochete could be found in the skin sections staining with Warthin-Starry stain. Using nested polymerase chain reaction, treponemal genomic DNA fragments encoding DNA polymerase I were detected.展开更多
A 54- year- old man presented with multiple lesions (seven) on the lower extremities and abdomen. These lesions had been present for at least 12 years with gradual growth and some had spontaneously disappeared; all we...A 54- year- old man presented with multiple lesions (seven) on the lower extremities and abdomen. These lesions had been present for at least 12 years with gradual growth and some had spontaneously disappeared; all were asymptomatic. Some of them had been treated with topical steroids and antimycotic creams with poor results. Past personal history was uneventful, but family history revealed the death of a son from metastatic visceral carcinoma. On dermatologic examination, six erythematous plaques of similar appearance were observed on the legs, abdomen and buttocks. All averaged 3 × 4 cm, with welldefined but irregular borders that did not seem to be infiltrated. On the skin surface, thick scales and crusts were present. Areas of spontaneous involution with residual hypopigmentation were present. On the dorsum of the left foot the biggest lesion was observed, measuring 4 × 8 cm. Unlike other lesions this was verrucous in appearance, with peripheral inflammation (Fig. 1). No ulceration or regional lymphadenopathies were present. General physical examination was unremarkable. Histopathology revealed an intraepidermal carcinoma with an intact basal membrane, consistent with Bowen’ s disease. The presence of multiple clear cells was noted. The biopsy of the verrucous lesion showed an extreme thickening of the epithelium with the papilli reduced to very thin strands. The architectural features seemed to be fully disorganized. Numerous cells appeared highly atypical, with large, hyperchromatic nuclei. Multinucleated atypical cells were often present. Dyskeratotic cells with homogenous, strongly eosinophilic cytoplasm were numerous. The most distinctive featurewas, however, the presence of multiple clear cells in the whole thickness of the epidermis. At some points there was effacement of the epidermal/dermal junction because of an intense chronic inflammatory reaction. Nevertheless, no atypicial cells were observed in the dermis (Fig. 2). All lesions were treated with cryosurgery except for the verrucous lesion, w展开更多
文摘Background. Darier’s disease or keratosis follicularis is an autosomal domina nt acantholytic disorder that frequently arises as a result of spontaneous mutat ion. It is either a generalized or localized condition due to a mutation in the SERCA2 12q23q24,1 resulting in a faulty organization of the tonofilaments. We pr esent two siblings affected with the linear form of this disorder and discuss th ese cases as an example of the genetic mechanism of loss of heterozygosity. Case reports. A 7 year-old girl was referred for evaluation of linear lesions prese nt since the first year of age. Examination disclosed red, 1 to 2 mmpapulesthatc oalescedtoformlinearplaquesontheleftside of the vulvar and perianal areas, and o n the left hand and foot. Her older brother had similar lesions in a linear arra ngement on the left side of the face neck and homolateral foot. No lesions were found in their parents. Biopsies of both affected children revealed an intraepid ermal suprabasal cleft. Dyskeratotic cells were present in the spinous layer, an d corps ronds and grains near the granular layer. Discussion. The linear form of Darier’s disease could result from genetic mosaicism for this autosomal domina nt disorder. As these children have a more pronounced involvement than the usual Darier’s disease lesions, disposed in a linear arrangement, they probably repr esent a type 2 segmental manifestation of the disorder. Likewise, the presence o f the same linear disorder in two siblings could be explained by loss of heteroz ygosity for the Darier’s disease gene.
文摘A 1-day-old male newborn was born with respiratory distress, low birth weight, hepatosplenomegaly, and bullous targetoid skin lesions over the face, back, buttocks, and extremities. A diagnosis of early congenital syphilis was made based on a treponemal serologic test. Pathologic examination of the skin lesion showed scattered dyskeratotic cells in the epidermis and interface dermatitis consistent with erythema multiforme. No spirochete could be found in the skin sections staining with Warthin-Starry stain. Using nested polymerase chain reaction, treponemal genomic DNA fragments encoding DNA polymerase I were detected.
文摘A 54- year- old man presented with multiple lesions (seven) on the lower extremities and abdomen. These lesions had been present for at least 12 years with gradual growth and some had spontaneously disappeared; all were asymptomatic. Some of them had been treated with topical steroids and antimycotic creams with poor results. Past personal history was uneventful, but family history revealed the death of a son from metastatic visceral carcinoma. On dermatologic examination, six erythematous plaques of similar appearance were observed on the legs, abdomen and buttocks. All averaged 3 × 4 cm, with welldefined but irregular borders that did not seem to be infiltrated. On the skin surface, thick scales and crusts were present. Areas of spontaneous involution with residual hypopigmentation were present. On the dorsum of the left foot the biggest lesion was observed, measuring 4 × 8 cm. Unlike other lesions this was verrucous in appearance, with peripheral inflammation (Fig. 1). No ulceration or regional lymphadenopathies were present. General physical examination was unremarkable. Histopathology revealed an intraepidermal carcinoma with an intact basal membrane, consistent with Bowen’ s disease. The presence of multiple clear cells was noted. The biopsy of the verrucous lesion showed an extreme thickening of the epithelium with the papilli reduced to very thin strands. The architectural features seemed to be fully disorganized. Numerous cells appeared highly atypical, with large, hyperchromatic nuclei. Multinucleated atypical cells were often present. Dyskeratotic cells with homogenous, strongly eosinophilic cytoplasm were numerous. The most distinctive featurewas, however, the presence of multiple clear cells in the whole thickness of the epidermis. At some points there was effacement of the epidermal/dermal junction because of an intense chronic inflammatory reaction. Nevertheless, no atypicial cells were observed in the dermis (Fig. 2). All lesions were treated with cryosurgery except for the verrucous lesion, w
