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2.
Artigo em Inglês | MEDLINE | ID: mdl-31343132

RESUMO

Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12). The phenotype is variable and presents a wide clinical spectrum. Most cases are characterised by thin, sparse scalp hair, distinctive facial dysmorphism, and various skeletal abnormalities, especially of the hands and feet. Characteristic facial features may include a "pear-shaped" nose, micrognathia, dental anomalies, prominent ears, elongated philtrum, and thin upper vermillion border. In most cases, affected individuals exhibit skeletal abnormalities including brachydactyly and clinodac-tyly, short metacarpals phalanges, short feet and metatarsals, and pectus carinatum and hip joint malformations. Additionally, patients may exhibit short stature. This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and vari-ous skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and den-tal specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affect-ed individuals and their families.


Assuntos
Dedos/anormalidades , Doenças do Cabelo/diagnóstico , Síndrome de Langer-Giedion/diagnóstico , Nariz/anormalidades , Adolescente , Criança , Pré-Escolar , Feminino , Dedos/patologia , Doenças do Cabelo/genética , Doenças do Cabelo/patologia , Doenças do Cabelo/terapia , Humanos , Síndrome de Langer-Giedion/genética , Síndrome de Langer-Giedion/patologia , Síndrome de Langer-Giedion/terapia , Masculino , Mutação , Nariz/patologia , Fenótipo , Polônia , Proteínas Repressoras/genética
6.
Indian J Pathol Microbiol ; 62(2): 313-318, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971565

RESUMO

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the development of multiple cutaneous adnexal neoplasms namely cylindroma, trichoepithelioma and spiradenoma. The neoplasms associated with this syndrome are generally benign, but rarely they may undergo malignant transformation. A 63-year-old male presented with an ulcerated nodular lesion over glabella and multiple asymptomatic nodular lesions over face, scalp, chest and limbs. His father, grandfather and paternal cousins had history of similar lesions. Histopathological examination revealed trichoblastic carcinoma arising from trichoepithelioma over glabella and cylindroma on the chest. With these findings we arrived at a diagnosis of BSS with malignant transformation of trichoepithelioma. Trichoblastic carcinoma arising in trichoepithelioma in a patient with BSS is extremely rare with only a single case reported in literature.


Assuntos
Carcinoma Adenoide Cístico/patologia , Carcinoma/diagnóstico , Síndromes Neoplásicas Hereditárias/complicações , Neoplasias Cutâneas/complicações , Neoplasias das Glândulas Sudoríparas/diagnóstico , Transformação Celular Neoplásica , Diagnóstico Diferencial , Face/patologia , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/patologia , Folículo Piloso/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Couro Cabeludo/patologia , Neoplasias das Glândulas Sudoríparas/patologia
8.
Gene ; 699: 110-114, 2019 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-30844479

RESUMO

Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L.


Assuntos
Diarreia Infantil/diagnóstico , Diarreia Infantil/genética , Diarreia/diagnóstico , Diarreia/genética , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/genética , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , DNA Helicases/genética , Facies , Heterozigoto , Humanos
9.
Dermatol Online J ; 25(2)2019 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-30865412

RESUMO

Clinicians have a tendency to dismiss patients with psychiatric illness like skin picking disorder without assessing completely for organic disease. Patients with psychocutaneous disease have the potential to develop true dermatopathology and should always be examined thoroughly. We describe a case of skin picking disorder with underlying pilomatricoma. The patient met criteria for skin picking disorder and had been prescribed numerous topical treatments without efficacy by countless physicians over 18 years. In addition, a pilomatricoma was discovered within a self-inflicted ulcer. Pilomatricomas can rarely result from trauma and develop ossification, both of which were true of this lesion. The prevalence of skin picking disorder proves more pervasive than previously realized and it has only recently been recognized by the DSM-5 as an independent diagnosis. Therefore, it is necessary to clarify the diagnosis as well as remind clinicians not to discount underlying dermatologic disease. In addition to the risk of bleeding and infection, these patients are at risk for masking neoplasms, which should be removed. Our case emphasizes the need for thorough examination of patients with psychocutaneous disease and further work-up when necessary to prevent permanent disfigurement.


Assuntos
Neoplasias Faciais/complicações , Transtorno Obsessivo-Compulsivo/psicologia , Ossificação Heterotópica/complicações , Pilomatrixoma/complicações , Neoplasias Cutâneas/complicações , Úlcera Cutânea/etiologia , Adulto , Ansiedade/psicologia , Bochecha , Neoplasias Faciais/diagnóstico , Feminino , Doenças do Cabelo/complicações , Doenças do Cabelo/diagnóstico , Humanos , Ossificação Heterotópica/diagnóstico , Pilomatrixoma/diagnóstico , Neoplasias Cutâneas/diagnóstico
12.
Pediatr Dermatol ; 36(2): 260-261, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30791146

RESUMO

We report a 6-month-old girl born with a fronto-parietal patch of hair straighter than the remainder of the scalp hairs. We took a biopsy to rule out a congenital melanocytic nevus. We concluded after additional scanning electron microscopy study of the hair shafts that the lesion corresponds to a possible local mosaicism causing an isolated straight hair nevus phenotype.


Assuntos
Doenças do Cabelo/diagnóstico , Cabelo/patologia , Nevo Pigmentado/diagnóstico , Feminino , Doenças do Cabelo/patologia , Humanos , Lactente , Microscopia Eletrônica de Varredura , Mosaicismo
14.
J Cutan Pathol ; 46(4): 256-260, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30632192

RESUMO

BACKGROUND: The role of the mammalian target of rapamycin (mTOR) in hair follicle tumorigenesis is unclear. mTOR controls cell growth and can be activated through ribosomal S6 kinase. Herein, we sought to evaluate the expression of phospho-S6 in six different benign and malignant follicular tumor types. METHODS: 76 cases were selected (17 fibrofolliculomas, 20 trichoepitheliomas, 10 tricholemmomas, 19 pilomatricomas, 1 malignant proliferating tricholemmal tumor, 8 tricholemmal carcinomas, and 1 trichoblastic carcinoma) and collected over 16 years. Immunohistochemistry with monoclonal antibody for phospho-S6 was performed and analyzed semi-quantitatively; statistical analysis using the χ2 test was performed, with P < 0.05 considered significant. RESULTS: All malignant neoplasms in our series (8/8 [100%] cases of tricholemmal carcinoma, 1/1 [100%] trichoblastic carcinoma, and 1/1 [100%] malignant proliferating tricholemmal tumor) showed a strong and diffuse pattern of staining for phospho-S6 involving 70% to 90% of tumor cells. By contrast, a minority of benign tumors were positive for phospho-S6 and most stained in a patchy pattern including 12/17 (71%) fibrofolliculomas, 9/20 (45%) trichoepitheliomas and 1/10 (10%) tricholemmomas, involving 30% to 50%, 5% to 20%, and 40% to 50% of tumor cells, respectively. Most pilomatricomas (17/19 [89%]) exhibited a stronger, but distinctive staining pattern, staining mostly the basaloid cells with a multifocal distribution, involving 70% to 90% of tumor cells. CONCLUSIONS: Phospho-S6 is differentially expressed among benign and malignant hair follicle tumors (P = 0.0044). While malignant tumors show diffuse expression, only a small subset of benign neoplasms were positive, primarily in a patchy distribution.


Assuntos
Biomarcadores Tumorais/análise , Doenças do Cabelo/diagnóstico , Folículo Piloso/patologia , Proteínas Quinases S6 Ribossômicas/análise , Neoplasias Cutâneas/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Doenças do Cabelo/metabolismo , Doenças do Cabelo/patologia , Folículo Piloso/metabolismo , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Serina-Treonina Quinases TOR/metabolismo , Adulto Jovem
17.
Int J Surg Pathol ; 27(1): 19-27, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29938548

RESUMO

BACKGROUND: Trichoblastoma (TB) and basal cell carcinoma (BCC) are 2 different neoplasms composed of basaloid cells and have overlapping histopathological features. We compared the immunoexpression of CD10, T-cell death-associated gene 51 (TDAG51), cytokeratin 20 (CK20), androgen receptor (AR), insulinoma-associated protein 1 (INSM1), and nestin for the differential diagnosis of these tumors. MATERIALS AND METHODS: We assessed a total of 27 BCC and 27 TB cases, including 4 TB lesions in nevus sebaceous and 3 malignant TB lesions for CD10, TDAG51, CK20, AR, INSM1, and nestin expression. RESULTS: Staining for CK20, TDAG51, INSM1, and stromal CD10 was significantly more common in TB cases than in BCC cases ( P < .001). Epithelial CD10 and AR staining was significantly more common in BCC cases than in TB cases ( P < .001). The difference between the groups for nestin staining was not significant ( P > .05). Stromal CD10 staining was the most sensitive marker (96.3%) and INSM1 the least sensitive (55.6%) marker for TB. TDAG51 showed 100% specificity for TB. A larger number of CK20 positive cells was found in the cases associated with nevus sebaceous than in the other TBs. CONCLUSION: All the selected markers except nestin were useful for the differential diagnosis between TB and BCC. CD10 and TDAG51 were more useful than the other markers. The use of CK20 could be preferred in nevus sebaceous lesions. INSM1 was less effective in highlighting Merkel cells within the lesion than CK20.


Assuntos
Carcinoma Basocelular/diagnóstico , Doenças do Cabelo/diagnóstico , Folículo Piloso/patologia , Neoplasias Cutâneas/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Feminino , Humanos , Queratina-20/biossíntese , Masculino , Pessoa de Meia-Idade , Neprilisina/biossíntese , Nestina/biossíntese , Receptores Androgênicos/biossíntese , Proteínas Repressoras/biossíntese , Fatores de Transcrição/biossíntese
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