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1.
Acta Dermatovenerol Croat ; 32(1): 39-43, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38946186

RESUMO

Basaloid follicular hamartoma (BFH) is rare benign follicular malformation that is often clinically misdiagnosed. Patients with BFH demonstrate a variety of clinical manifestations and associated abnormalities. BFH may be a familial, congenital, or acquired condition with localized or generalized distribution. Several clinical variants of generalized BFH are known, and they can be associated with a diverse spectrum of abnormalities. Herein, we report two cases of solitary BFH in pediatric patients, both documented dermoscopically.


Assuntos
Hamartoma , Criança , Humanos , Dermoscopia , Folículo Piloso/patologia , Folículo Piloso/anormalidades , Hamartoma/diagnóstico , Hamartoma/patologia
2.
Am J Med Genet A ; 188(12): 3525-3530, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35972041

RESUMO

Basaloid follicular hamartomas (BFH) are benign small basaloid skin tumors that can present as solitary or multiple lesions. Congenital BFH lesions arranged in a segmental distribution have been described, suggesting they derive from a somatic post-zygotic mutational event. Previously, BFH were described in Happle-Tinschert syndrome, which results from a post-zygotic SMO variant and is characterized by segmental BFH with variable involvement of the teeth, skeleton, and central nervous system. Here, we describe two patients with isolated segmental BFH and no systemic involvement. Paired whole exome sequencing of BFH and normal tissue revealed a pathogenic SMO c.1234 C>T, p.L412F variant restricted to BFH tissue. We characterized the proliferation index and expression of Hedgehog and Wnt/beta-catenin pathway related proteins in segmental BFH compared to sporadic basal cell carcinomas (BCCs) and found that segmental BFH had a lower proliferation index. Although segmental BFH expressed a similar level of Gli-1 compared to BCCs, levels of LEF-1 and SOX-9 expression in BFH were weaker for both and patchier for LEF-1. Our results show that a somatic SMO activating variant causes segmental BFH. Since these patients are prone to developing BCCs, differences in SOX9, LEF1, and Ki-67 expression can help distinguish between these two basaloid lesions.


Assuntos
Carcinoma Basocelular , Hamartoma , Dermatopatias , Neoplasias Cutâneas , Humanos , Folículo Piloso/anormalidades , Folículo Piloso/metabolismo , Folículo Piloso/patologia , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/genética , Carcinoma Basocelular/metabolismo , Hamartoma/diagnóstico , Hamartoma/genética , Hamartoma/metabolismo , Dermatopatias/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/metabolismo , Receptor Smoothened/genética
3.
Dermatol Online J ; 26(4)2020 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-32621683

RESUMO

Congenital atrichia with papular lesions is a rare, autosomal recessive and irreversible form of total alopecia of the body hair characterized by hair loss soon after birth and the development of keratinfilled cysts or horny papules over extensive areas of the body. The condition is associated with a mutation of the human hairless gene on chromosome region 8p12. We report a 1-year-old boy presenting with the absence of scalp and body hair since birth. On examination, he had complete absence of hair on the scalp, eyebrows, and eyelashes. Multiple, discrete, pearly-to-skin-colored papules of 1-3mm in size were present over the scalp. The skin biopsy from a scalp papule revealed normal overlying epidermis with multiple keratin cysts and hypoplastic hair follicles in the upper dermis.


Assuntos
Alopecia/congênito , Folículo Piloso/anormalidades , Dermatopatias Vesiculobolhosas/congênito , Pele/patologia , Alopecia/diagnóstico , Alopecia/genética , Alopecia/patologia , Biópsia , Consanguinidade , Diagnóstico Diferencial , Raquitismo Hipofosfatêmico Familiar/diagnóstico , Folículo Piloso/patologia , Humanos , Lactente , Masculino , Linhagem , Dermatopatias Vesiculobolhosas/diagnóstico , Dermatopatias Vesiculobolhosas/genética , Dermatopatias Vesiculobolhosas/patologia
4.
Dermatol Online J ; 26(1)2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-32155032

RESUMO

The combination of dabrafenib and trametinib is an important immunotherapy option for patients with BRAF V600 mutation-positive melanoma. This regimen has been reported to cause cutaneous eruptions. However, hair dysmorphology is not a reported side effect to these or any other medications to date. Herein, we highlight a case of pili multigemini formation in a patient with stage IV melanoma receiving treatment with dabrafenib and trametinib and the corresponding clinical findings.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Doenças do Cabelo/induzido quimicamente , Folículo Piloso/anormalidades , Imidazóis/efeitos adversos , Oximas/efeitos adversos , Transtornos da Pigmentação/induzido quimicamente , Piridonas/efeitos adversos , Pirimidinonas/efeitos adversos , Cabelo , Humanos , Imidazóis/uso terapêutico , Masculino , Melanoma/tratamento farmacológico , Melanoma/secundário , Pessoa de Meia-Idade , Oximas/uso terapêutico , Inibidores de Proteínas Quinases/efeitos adversos , Piridonas/uso terapêutico , Pirimidinonas/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico
5.
J Gene Med ; 22(5): e3167, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32020700

RESUMO

BACKGROUND: Congenital atrichia (CA) is a rare form of irreversible alopecia with an autosomal recessive mode of inheritance. This form of hair loss is mainly associated with mutations in the human hairless (HR) gene located at chromosome 8p21.3. An additional unique feature atrichia with papular lesions (APL) comprises keratin-filled cysts known as papules. The present study aimed to uncover the underlying genetic causes of APL in two consanguineous Kashmiri families. METHODS: In the present study, two consanguineous families of Kashmiri origin with APL displaying an autosomal recessive mode of inheritance were investigated. Whole exome and Sanger sequencing followed by bioinformatic studies, variant prioritization, Sanger validation and segregation analysis was performed to find the mutation. RESULTS: A recurrent nonsense (NM_005144: c.2818C > T:p.Arg940*) mutation was detected in exon 13 of the human HR gene. CONCLUSIONS: Whole exome sequencing analysis has widely been used in the screening of single gene disorders mutations, both in research and diagnostic laboratories. Sanger sequencing alone for genes such as HR becomes expensive and time consuming. Instead, it is recommended that a patient is to screen by whole exome sequencing and then special attention first focuses on known genes of the APL phenotype. This is helpful for intime diagnosis, being more efficient and economic. The results obtained in the present study may contribute to prenatal diagnosis, carrier secreening and the genetic counseling of families with the APL phenotype in Kashmiri poplution.


Assuntos
Alopecia/diagnóstico , Alopecia/genética , Éxons/genética , Folículo Piloso/anormalidades , Dermatopatias Vesiculobolhosas/diagnóstico , Dermatopatias Vesiculobolhosas/genética , Fatores de Transcrição/genética , Alelos , Alopecia/sangue , Alopecia/patologia , Códon sem Sentido , Família , Feminino , Humanos , Masculino , Mutação , Paquistão , Linhagem , Fenótipo , Dermatopatias Vesiculobolhosas/sangue , Sequenciamento do Exoma
8.
Indian J Dermatol Venereol Leprol ; 85(3): 287-290, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30246704

RESUMO

Basaloid follicular hamartoma is a rare, benign and superficial malformation of hair follicles, characterized histologically by epithelial proliferation of basaloid cells with radial disposition. It can be mistaken for basal cell carcinoma. Even though these hamartomas are considered benign lesions, malignant transformation has rarely been reported. We report the case of a 45-year-old healthy woman, with linear, unilateral basaloid follicular hamartoma which developed inflamed papules histologically suggestive of basal cell carcinoma. We believe that identification of local inflammation could be a clinical clue to guide us towards a malignant transformation of basaloid follicular hamartoma.


Assuntos
Folículo Piloso/anormalidades , Folículo Piloso/patologia , Hamartoma/diagnóstico , Dermatopatias Genéticas/diagnóstico , Feminino , Folículo Piloso/cirurgia , Hamartoma/patologia , Hamartoma/cirurgia , Humanos , Inflamação/diagnóstico , Inflamação/patologia , Inflamação/cirurgia , Pessoa de Meia-Idade , Dermatopatias Genéticas/patologia , Dermatopatias Genéticas/cirurgia
9.
Artigo em Inglês | MEDLINE | ID: mdl-29491193

RESUMO

Basaloid follicular hamartoma (BFH) is a rare hamartoma of hair follicle. Clinical presentations may vary but are united by the same histopathological features in the form of folliculocentric basaloid or squamoid cell proliferation in the superficial dermis, which represents malformed and distorted hair follicles. It is important to recognize this entity as its simulant is basal cell carcinoma, a low-grade malignancy. Here, we report a case of localized unilateral BFH in a Blaschkoid distribution on the face of a 14-year-old female.


Assuntos
Face/patologia , Folículo Piloso/anormalidades , Hamartoma/diagnóstico , Dermatopatias Genéticas/diagnóstico , Adolescente , Feminino , Folículo Piloso/imunologia , Hamartoma/imunologia , Humanos , Dermatopatias Genéticas/imunologia
10.
Dermatol Clin ; 36(4): 421-430, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30201151

RESUMO

Trichoscopy allows analyzing the structure and size of growing hair shafts in their natural environment in children and adults. The method replaces light microscopy, which requires pulling of multiple hairs for investigation. In monilethrix, trichoscopy shows uniform elliptical nodosities with intermittent constrictions. In trichorrhexis nodosa nodular thickenings along hairs shafts are visible (low magnification) or splitting into numerous small fibers along the hair shaft may be observed (high magnification). In trichorrhexis invaginata (bamboo hair) the hair shaft telescopes into itself at several points along the shaft. Trichoscopy shows small nodules along the shaft. Hairs bend and break in these diseases. Trichoscopy of pili torti shows twists of hair shafts along their long axis. In pili annulati hair shafts with alternating white and dark bands are visible. In woolly hair the examination demonstrates hair shafts with waves at very short intervals. For trichothiodystrophy polarized trichoscopy should be used. In ectodermal dysplasias, trichoscopy shows a variety of hair abnormalities, but the most characteristic finding is hair shaft pigmentation heterogeneity.


Assuntos
Dermoscopia , Doenças do Cabelo/diagnóstico por imagem , Cabelo/diagnóstico por imagem , Displasia Ectodérmica/diagnóstico por imagem , Folículo Piloso/anormalidades , Folículo Piloso/diagnóstico por imagem , Humanos , Monilétrix/diagnóstico por imagem , Síndrome de Netherton/diagnóstico por imagem , Síndromes de Tricotiodistrofia/diagnóstico por imagem
11.
Pediatr Dermatol ; 35(6): e396-e397, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30152544

RESUMO

Basaloid follicular hamartoma is a relatively rare benign neoplasm of follicular origin that can be mistaken histologically for basal cell carcinoma, but hereditary forms of basaloid follicular hamartoma are associated with nevoid basal cell carcinoma syndrome, or Gorlin syndrome. The pathophysiology of basaloid follicular hamartoma development involves mutations in the patched gene, which is also causative in nevoid basal cell carcinoma syndrome. We present a mother and daughter with basaloid follicular hamartomas, with genetic testing confirming patched gene mutation in the daughter.


Assuntos
Síndrome do Nevo Basocelular/diagnóstico , Folículo Piloso/anormalidades , Hamartoma/diagnóstico , Dermatopatias Genéticas/diagnóstico , Neoplasias Cutâneas/patologia , Adulto , Diagnóstico Diferencial , Feminino , Testes Genéticos , Hamartoma/patologia , Humanos , Lactente , Mutação , Receptor Patched-1/genética , Pele/patologia
12.
Artigo em Inglês | MEDLINE | ID: mdl-29589644

RESUMO

Congenital atrichia with papular lesions (APL) is a disease characterized by the complete absence of hair from the whole body occurring within a few months of birth and the presence of papules distributed over the body. A 9-year-old boy presented with sparse hair over his body and with a history of losing his hair soon after birth. Multiple skin-colored papules were observed over the scalp. A biopsy from a papule showed keratinous cysts in the dermis and the absence of hair follicles. A diagnosis of congenital APL was made after vitamin D-dependent rickets was excluded. This case highlights congenital APL as a cause of total alopecia.


Assuntos
Alopecia/etiologia , Folículo Piloso/anormalidades , Dermatopatias Vesiculobolhosas/congênito , Dermatopatias Vesiculobolhosas/complicações , Alopecia/complicações , Alopecia/congênito , Alopecia/patologia , Biópsia por Agulha , Criança , Seguimentos , Folículo Piloso/patologia , Humanos , Imuno-Histoquímica , Masculino , Doenças Raras , Índice de Gravidade de Doença , Dermatopatias Vesiculobolhosas/patologia
13.
Anticancer Res ; 38(1): 471-476, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29277811

RESUMO

BACKGROUND/AIM: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. The aim of our single-institution study was the analysis of a cohort of PTCH1-mutated patients in order to define clinical and biomolecular relationship between NBCCS and BFHs. MATERIALS AND METHODS: In our study we evaluated PTCH1 gene-carrier probands affected by NBCCS to detect the incidence of BFHs and their correlation with this rare syndrome. RESULTS: Among probands we recognized 4 patients with BFHs. We found 15 germline PTCH1 mutations, uniformly distributed across the PTCH1 gene. Six of them had familial history of NBCCS, two of them were novel and have not been described previously. CONCLUSION: NBCCS and BFHS may be the same genetic entity and not two distinctive syndromes. The inclusion of BFH in the NBCCS cutaneous tumor spectrum might be useful for the recognition of misdiagnosed NBCCS cases that could benefit from tailored surveillance strategies.


Assuntos
Síndrome do Nevo Basocelular/genética , Folículo Piloso/anormalidades , Hamartoma/genética , Receptor Patched-1/genética , Dermatopatias Genéticas/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/patologia , Feminino , Mutação em Linhagem Germinativa/genética , Folículo Piloso/patologia , Hamartoma/diagnóstico , Hamartoma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/patologia , Neoplasias Cutâneas/patologia , Adulto Jovem
14.
J Cell Biochem ; 119(1): 69-80, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28543886

RESUMO

The mammalian hairless protein (HR) is a 130 kDa nuclear transcription factor that is essential for proper skin and hair follicle function. Previous studies have focused on the role of HR in skin maintenance and hair cycling. However, the hairless gene (HR) is also expressed in brain and other tissues, where its role remains poorly understood. HR has been reported to contain functional domains that potentially serve in DNA binding, histone demethylation, nuclear translocation and protein-protein interactions. Indeed, HR has been shown to interact with and repress the action of the nuclear receptors for vitamin D and thyroid hormone as well as RAR-related orphan receptor alpha, possibly via recruitment of histone deacetylases. HR may also have important functions in non-skin tissues given that nearly 200 HR mutations have been identified in patients with various cancers, including prostate, breast, lung, melanoma, uterine, and glioma. This suggests that HR and/or mutants thereof have relevance to the growth and survival of cancer cells. For example, the reported intrinsic histone H3K9 demethylase activity of HR may activate dormant genes to contribute to carcinogenesis. Alternatively, the demonstrated ability of HR to interact with p53 and/or the p53 DNA response element to influence p53-regulated pathways may explain, at least in part, why many cancers express mutated HR proteins. In this review, we summarize the current knowledge of HR bioactions, how HR mutations may be contributing to alopecia as well as to cancer, and, finally, outline future directions in the study of this largely enigmatic nuclear protein. J. Cell. Biochem. 119: 69-80, 2018. © 2017 Wiley Periodicals, Inc.


Assuntos
Neoplasias/genética , Fatores de Transcrição/genética , Fatores de Transcrição/fisiologia , Alopecia/genética , Neoplasias Encefálicas/genética , Proteínas Correpressoras/metabolismo , Regulação da Expressão Gênica , Doenças do Cabelo/genética , Folículo Piloso/anormalidades , Humanos , Dermatopatias Vesiculobolhosas/genética , Fatores de Transcrição/química , Fatores de Transcrição/metabolismo
16.
Rev. medica electron ; 39(3): 577-583, may.-jun. 2017.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-902201

RESUMO

Se realiza la presentación de un caso clínico en edad pediátrica con diagnóstico de pilomatrixoma, variedad ampollar. Este tumor benigno originado en la vaina del folículo piloso muestra una incidencia elevada en las dos primeras décadas de vida. El objetivo de este artículo es presentar un caso con diagnóstico de un tumor, con características clínicas atípicas e inusuales. En ocasiones este tipo de tumor, conllevan al diagnóstico erróneo de la entidad, realizándose el diagnóstico de certeza mediante el estudio histopatológico una vez que se procede a la exéresis quirúrgica de la lesión (AU).


A clinical case with diagnosis of bullous variety pilomatrixoma in pediatric age is presented. This benign tumor originated in the sheath of the hair follicle shows a high incidence in the first 20 years of life. The aim of this work is presenting a case with tumor diagnosis, the clinical characteristics of which sometimes leads to an erroneous diagnosis of the entity in the atypical and unusual varieties. The accurate diagnosis was made through the pathologic study after the surgical excision of the lesion (AU).


Assuntos
Humanos , Masculino , Feminino , Criança , Criança , Pilomatrixoma/epidemiologia , Biópsia/métodos , Pilomatrixoma/diagnóstico , Pilomatrixoma/reabilitação , Pilomatrixoma/terapia , Folículo Piloso/anormalidades , Neoplasias/diagnóstico , Neoplasias/epidemiologia
18.
Int J Dermatol ; 55(9): 977-81, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26680117

RESUMO

BACKGROUND: Atrichia with papular lesions (APL) is a rare irreversible form of complete hair loss inherited in autosomal recessive manner. Hair loss is often followed by the appearance of multiple keratin-filled cysts or papules on exterior parts of the body. This phenotype results due to mutations in the human hairless gene (HR) mapped on chromosome 8p21.3. The present study was aimed to search for disease-causing sequence variants in the HR gene in five consanguineous families exhibiting features of APL. METHODS: Linkage in five Pakistani lineal consanguineous families, displaying features of APL, was tested using microsatellite markers flanking the HR gene on chromosome 8p21.3. After constructing the haplotypes, variants in the gene HR were searched by dideoxy-chain termination sequencing. RESULTS: Haplotype analysis established linkage in all five families to the HR gene located on chromosome 8p.21.3. Subsequently, sequencing HR identified a novel homozygous nonsense variant (c.2541G>A, p.Trp847*) in one and previously reported two pathogenic variants (p.Cys690*, p.Pro1157Arg) in the other four families. CONCLUSION: Mutations identified extend the spectrum of mutations in the HR gene resulting in APL. Characterizing the clinical spectrum resulting from the disease-causing homozygous variants in the HR gene will direct clinical care of the family members.


Assuntos
Alopecia/genética , Folículo Piloso/anormalidades , Dermatopatias Vesiculobolhosas/genética , Fatores de Transcrição/genética , Cromossomos Humanos Par 8 , Consanguinidade , Feminino , Haplótipos , Homozigoto , Humanos , Masculino , Mutação de Sentido Incorreto , Paquistão , Linhagem
19.
Pediatr Dermatol ; 32(6): 836-44, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26584693

RESUMO

OBJECTIVES: The objective of the current study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using scanning electron microscopy (SEM) and to compare the findings with those in unaffected controls. This is the second of a two-part study, the first of which used light microscopy as the modality and was previously published. METHODS: Scanning electron microscopy was performed in a blinded manner on hair shafts from 65 subjects with seven types of ED syndromes and 41 unaffected control subjects. Assessment was performed along the length of the shaft and in cross section. SETTING: Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control subjects were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. RESULTS: SEM identified various pathologic hair shaft abnormalities in each type of ED and in control patients. When hairs with all types of ED were grouped together and compared with those of control patients, the difference in the presence of small diameter and shallow and deep grooves was statistically significant (p < 0.05). When the EDs were separated according to subtype, statistically significant findings were also seen. CONCLUSION: SEM is a possible adjuvant tool in the diagnosis of ED syndromes. There are significant differences, with high specificity, between the hairs of individuals with ED and those of control subjects and between subtypes.


Assuntos
Displasia Ectodérmica/diagnóstico , Cabelo/anormalidades , Cabelo/ultraestrutura , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Displasia Ectodérmica/patologia , Feminino , Folículo Piloso/anormalidades , Folículo Piloso/ultraestrutura , Humanos , Lactente , Masculino , Microscopia Eletrônica de Varredura/métodos , Valores de Referência , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Síndrome
20.
Curr Probl Dermatol ; 47: 87-96, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26370647

RESUMO

Recent developments in research methods and techniques, such as whole-exome and -genome sequencing, have substantially improved our understanding of genetic conditions. Special progress has been made in the field of genotrichoses, or hereditary hair diseases, a field that has been obscure for many years. The underlying genes for many of the monogenic hair diseases are now known. Additionally, complex analyses of large cohorts of patients have given us the first clues to the genes associated with polygenic hair disorders, such as androgenetic alopecia and alopecia areata. Thanks to these major findings, the sophisticated regulation of the morphogenesis, development and growth of hair follicles has begun to be revealed, and new players in this delicate molecular interplay have been exposed.


Assuntos
Alopecia/genética , Displasia Arritmogênica Ventricular Direita/genética , Cardiomiopatias/genética , Displasia Ectodérmica/genética , Doenças do Cabelo/congênito , Folículo Piloso/anormalidades , Ceratodermia Palmar e Plantar/genética , Monilétrix/genética , Dermatopatias Vesiculobolhosas/genética , Alopecia em Áreas/genética , Cardiomiopatia Dilatada , Doenças do Cabelo/genética , Humanos , Hipotricose/genética , Biologia Molecular
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