Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.

Multiple vulvar dilated pores in a postmenopausal woman

Abstract: Winer's dilated pore is an infrequent appendageal tumor characterized by a giant comedone on the face, neck, and upper trunk in adults. We report a 57-year-old woman who developed multiple asymptomatic black papules on both labia majora. Histopathology showed grouped dilated follicles lined by keratinizing squamous epithelium in the superficial dermis. The superficial lining epithelium and interfollicular epidermis were atrophic, while the deep epithelium showed mild proliferation and melanin pigmentation with a few short projections extending into the surrounding dermis. We diagnosed multiple Winer's dilated pores based on late-onset lesions and pathological features. This patient may represent the first case of multiple vulvar Winer's dilated pores. We suggest that electrocautery may be effective for treating this type of superficial entity.

Carcinoma triquilemal, um tumor incomum: atualização sobre manejo e prognóstico / Trichilemmal carcinoma, an uncommon tumor: update on its management and prognosis

INTRODUÇÃO: O carcinoma triquilemal (CT) é uma neoplasia rara dos anexos cutâneos. Foi descrito pela primeira vez em 1968, como tricoleptocarcinoma, e tem incidência de 0,05% em pacientes submetidos a exame histopatológico após excisão de lesões cutâneas. Parece ser um tumor de baixa agressividade, porém, relatos na literatura colocam em dúvida tal comportamento indolente. OBJETIVOS: Oferecer uma atualização sobre manejo e prognóstico do CT. MÉTODOS: Pesquisa no PubMed e SciELO com os termos MeSH "trichilemmal carcinoma", "tricholemmal carcinoma", "adnexal skin tumor", "carcinoma triquilemal". RESULTADOS: Devido a sua raridade, a maior parte da literatura se baseia em relatos de caso, os quais na sua maioria corroboram a natureza indolente da doença. Excisão cirúrgica é o tratamento preconizado, com baixo risco de recidiva e baixa morbimortalidade. CONCLUSÃO: O comportamento da lesão e as condutas no tratamento do CT baseiam-se em casos isolados ou de pequenas séries de casos. Devido a sua baixa prevalência, uma colaboração multicêntrica agrupando um maior número de casos pode ajudar a definir melhor recomendações de tratamento, fisiopatologia e prognóstico. Excisão cirúrgica continua a ser o padrão-ouro de tratamento, com baixo risco de recidiva.

INTRODUCTION: Trichilemmal carcinoma (TC) is a rare neoplasm of skin appendages. It was first described in 1968 as tricoleptocarcinoma, and has an incidence of 0.05% in patients subjected to histopathological examination after excision of cutaneous lesions. TC has an indolent clinical course ; however, reports in the literature put in doubt this indolent behavior. OBJECTIVES: To provide an update on the management and prognosis of TC. METHODS:A search of the PubMed and SciELO databases by using with the MeSH terms "trichilemmal carcinoma", "tricholemmal carcinoma", "adnexal skin tumor", and "carcinoma triquilemal" was performed. RESULTS: Owing to the rarity of TC, most studies were case reports, which essentially corroborate the indolent nature of the disease. Surgical excision is the recommended treatment, and is associated with a low risk of recurrence and low morbidity and mortality. CONCLUSION: The behavior of the lesion and the procedure of treatment of TC are based on isolated cases or in a small series of cases. Because of its low prevalence, a multicenter collaboration of a greater number of cases can help define the best treatment recommendations, pathophysiology, and prognosis. Surgical excision remains the gold standard of treatment, and is associated with a low risk of recurrence.

Gene expression of the skin and sweat glands in different development stages of embryo / 中国组织工程研究

10.3969/j.issn.2095-4344.2013.24.008

Influence of dermal analog composed with MSCs upon the differentiation potency of ES cell-derived epidermal stem cells / 基础医学与临床

Objective To explore the differentiation potency of ES cell-derived epidermal stem cells compounded by dermal analogs reconstructed with bone MSCs in hypodermis.Methods The dermal analogs were reconstructed with rat bone MSCs and compound gel-gelatin sponge.E14-ES cells,labeled with Hoechst 33342,were cocultured with human amnion.Four days later,epidermal stem cell clones were formed.The skin analogs,reconstructed with ES cell-derived epidermal stem cells and dermal analogs,were transplanted into 129 mice hypodermis.The differentiation tissue of skin analogs was sampled at 2,4,6,8 weeks.The sections were observed with HE staining,immunohistochemical and di-labeled immunofluorescence methods to test the expression of ?1 integrin,CK15,CK19,CEA,CK18.Results The sections were showed tubular or follicular like structures formed with simple or stratified epithelium at 2 and 4 weeks.Keratinized stratified squamous epithelium,sweat glands-like,sebaceous glands-like and hair follicles-like structures were observed at 6 week and 8 week after transplantation.The cells labeled by Hoechst 33342,formed tubular or follicular like structures,expressed?1 integrin,CK15,CK19,CEA and CK18positive respectively at 2 and 4 weeks.The sweat glands-like structure expressed CEA and CK18 positive respectively at 6 and 8 weeks.There were more sebaceous glands-like structures.Conclusion ES cell-derived epidermal stem cells compounded by dermal analogs reconstructed with bone MSCs can differentiate into keratinized stratified squamous epithelium,sweat glands-like,sebaceous glands-like and hair follicles-like structures in hypodermis.

ES CELL-DERIVED EPIDERMAL STEM CELLS FOR TREATMENT OF MICE FULL THICKNESS SKIN DEFECTS / 解剖学报

Objective To provide a new way for treatment of full thickness skin defects by embryonic stem(ES) cell-derived epidermal-like stem cells. Methods Epidermal like stem cells,labeled by Hoechst 33342 and carried by a layer of biomembrane,were transplanted into the defective skin of mice.The differentiation tissue of donor cells was sampled each week.The sections were observed with HE staining,immunohistochemical and di-labeled immunofluorescence methods to test the expression of ?1 integrin,CK15,CK19,CK10,CEA. Results The full thickness skin defects were healed in 2 weeks.The newborn skin was thicker than the normal skin.The basal layer cells proliferated.There were more bulky cellular poles towards dermis.The cells labeled by Hoechst 33342,located in the newborn epidermis and tubular or follicular structures in dermis,expressed ?1 integrin and CK15 positive respectively in the first 3 weeks.There were sweat gland-like,sebaceous gland-like and hair follicle-like structures in the newborn dermis after 4 weeks.Basal cells of keratinized stratified squamous epithelium expressed CK19 and CK10 positive respectively and sweat gland-like structure expressed CEA positive.Conclusion ES cell-derived epidermal stem cells can restore mice full thickness skin defects.There are epidermis,sweat gland-like,sebaceous gland-like and hair follicle-like structures in the newborn skin.