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1.
Pediatr Ann ; 53(4): e146-e151, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38574070

RESUMO

When evaluating pediatric patients of color, it is essential to consider the unique diagnostic and treatment factors that apply to this population. Certain dermatologic conditions are more common in these patients, including postinflammatory hyperpigmentation, pityriasis alba, progressive macular hypomelanosis, tinea capitis, traction alopecia, keloids, hypertrophic scars, pseudofolliculitis barbae, acne keloidalis nuchae, and hidradenitis suppurativa. Furthermore, conditions such as vitiligo are more noticeable in people of color. This can lead to a significantly diminished quality of life, so these conditions should be quickly recognized and treated. Notably, inflammation can be difficult to recognize on the skin of people of color, which can lead to the underestimation of severity as well as inappropriate treatment. Treatment recommendations can also differ based on lifestyle or cultural norms, such as the use of tinted sunscreens and the consideration of hair care practices. Pediatricians should be aware of these conditions and treatment considerations to best treat pediatric patients of color. [Pediatr Ann. 2024;53(4):e146-e151.].


Assuntos
Dermatologia , Doenças do Cabelo , Dermatopatias , Humanos , Criança , Qualidade de Vida , Pigmentação da Pele , Dermatopatias/terapia , Doenças do Cabelo/terapia
3.
Arch Dermatol Res ; 314(5): 399-403, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33993349

RESUMO

Trichoblastic carcinoma is a rare neoplasm thought to arise from malignant degeneration of benign follicular tumors. Its clinical features, optimal treatment, and outcomes remain largely unknown. We performed a comprehensive review of the existing trichoblastic carcinoma literature. PubMed and Google Scholar were searched for keywords related to trichoblastic carcinoma, and additional articles were found in reference lists. Cases with a histopathologic diagnosis of trichoblastic carcinoma were summarized. A total of 93 cases have been described, all in case reports or case series. The average age was 65, with 66.7% of cases in males. A minority of patients had familial tumor syndromes or a history of radiation at the site, and only one was reported to be immunosuppressed. The most common site was the face (48.4%), and the majority developed de novo (87.1%). The clinical presentation was highly variable. Although most cases (82.8%) were successfully treated with surgery alone, a subset of patients had more aggressive disease including local progression or recurrence in five cases, nodal metastases in five cases, and distant metastases in three cases. Trichoblastic carcinoma is a rare malignancy with the potential for aggressive behavior. Further research is needed to better characterize this neoplasm.


Assuntos
Carcinoma , Doenças do Cabelo , Neoplasias Cutâneas , Idoso , Carcinoma/patologia , Face/patologia , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/patologia , Doenças do Cabelo/terapia , Humanos , Masculino , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia
4.
Int J Cosmet Sci ; 43 Suppl 1: S1-S8, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33932025

RESUMO

We have conducted a thorough review of the literature to assess the evidence for supporting a cause-and-effect linkage between scalp condition and resultant hair condition. Over 20 epidemiological studies have been published covering a wide range of abnormal scalp conditions in which consequent impacts to the hair have been documented. A treatment study was conducted to demonstrate not only that impaired scalp condition led to impaired hair quality but that the impacts to hair are reversible upon normalization of the scalp condition. A proposed explanation involves the impact of scalp oxidative stress, which is part of the etiology of these scalp conditions as well as normal aging, in interfering with the normal keratinization of the pre-emergent hair cuticle. This perturbed cuticle impedes normal fiber anchorage and emerges more brittle and fragile than normal cuticle leading to accelerated physical degradation, mirroring the effects of chronological aging of the hair fiber. The consequences of the rapid cuticle degradation result in hair that is more vulnerable to mechanical insults and compromised overall quality.


Nous avons mené un examen approfondi de la littérature médicale pour évaluer les preuves étayant un lien de cause à effet entre l'état du cuir chevelu et celui des cheveux. Plus de 20 études épidémiologiques ont été publiées, couvrant un large éventail d'affections du cuir chevelu pour lesquelles des impacts conséquents sur les cheveux ont été documentés. Une étude de traitement a été menée pour démontrer non seulement qu'une altération du cuir chevelu entraînait une altération de la qualité des cheveux, mais aussi que les impacts sur les cheveux étaient réversibles après normalisation de l'état du cuir chevelu. Une explication proposée inclut l'impact du stress oxydatif sur le cuir chevelu, qui fait partie de l'étiologie de ces affections du cuir chevelu ainsi que du vieillissement normal, en interférant avec la kératinisation normale de la cuticule du cheveu à son point d'émergence. Cette cuticule perturbée gêne l'ancrage normal des fibres et fait émerger des cuticules plus fragiles et friables que la normale, entraînant une dégradation physique accélérée, reflet des effets du vieillissement chronologique des fibres capillaires. La dégradation rapide de la cuticule rend les cheveux plus vulnérables aux agressions mécaniques et compromet leur qualité globale.


Assuntos
Envelhecimento/fisiologia , Doenças do Cabelo/fisiopatologia , Cabelo/fisiopatologia , Estresse Oxidativo/fisiologia , Couro Cabeludo/fisiopatologia , Dermatopatias/fisiopatologia , Doenças do Cabelo/terapia , Humanos , Dermatopatias/terapia
5.
Clin Dermatol ; 38(6): 693-701, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33341202

RESUMO

Drug-induced changes of hair and nails have been observed with a variety of different pharmaceutical agents, both topical and systemic. These compounds or their metabolites may interfere with hair cycling and texture, nail matrix, nail bed, nail folds, and microvasculature. Phototoxic reactions may also occur. Before initiating treatment, physicians and patients should be aware of possible adverse events to hair and nails and should be aware of the preventive measures, if available, as quality of life can be reduced, and adherence and compliance to treatment may be impaired.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Doenças do Cabelo/induzido quimicamente , Doenças da Unha/induzido quimicamente , Preparações Farmacêuticas , Feminino , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/patologia , Doenças do Cabelo/terapia , Humanos , Masculino , Doenças da Unha/diagnóstico , Doenças da Unha/patologia , Doenças da Unha/terapia , Cooperação do Paciente , Qualidade de Vida
6.
Expert Rev Cardiovasc Ther ; 18(11): 801-808, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32966140

RESUMO

INTRODUCTION: Naxos disease is a rare entity that manifests with woolly hair, keratosis of extremities, and cardiac manifestations that resemble arrhythmogenic right ventricular cardiomyopathy. It is inherited in an autosomal recessive pattern and mutations affecting plakoglobin and desmoplakin have been identified. There is an increased risk of arrhythmias, including sudden cardiac death at a young age. Right ventricular systolic dysfunction often progresses and left ventricular involvement may also occur. AREAS COVERED: This article reviews historic background, epidemiology, clinical characteristics, genetics, and pathogenesis as well as therapeutic management and future perspectives. EXPERT OPINION: The principles of evaluation and treatment are based on arrhythmogenic right ventricular cardiomyopathy (ARVC) and general heart failure guidelines, because specific data on Naxos disease are limited. Therefore, larger registries on Naxos disease are welcome in order to gain more knowledge about clinical course and risk stratification. Translational research on pathophysiological mechanisms has evolved, including promising approaches using stem cells for novel targets.


Assuntos
Displasia Arritmogênica Ventricular Direita/fisiopatologia , Doenças do Cabelo/fisiopatologia , Ceratodermia Palmar e Plantar/fisiopatologia , Arritmias Cardíacas/etiologia , Displasia Arritmogênica Ventricular Direita/terapia , Cardiomiopatias/etiologia , Morte Súbita Cardíaca/etiologia , Doenças do Cabelo/terapia , Humanos , Ceratodermia Palmar e Plantar/terapia , gama Catenina/genética
7.
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
9.
J Drugs Dermatol ; 18(4): s138 - 143, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-31026130

RESUMO

The following roundtable is edited from discussion between the authors concerning treatment with the 650-microsecond 1064nm Nd:YAG laser. These dermatologist experts share their expertise, experience, and treatment pearls regarding the device for medical and aesthetic use, and in treatment of skin of color (SOC).


Assuntos
Lasers de Estado Sólido/uso terapêutico , Terapia com Luz de Baixa Intensidade/instrumentação , Envelhecimento da Pele/efeitos da radiação , Pigmentação da Pele/efeitos da radiação , Pele/efeitos da radiação , Acne Vulgar/terapia , Adulto , Feminino , Doenças do Cabelo/terapia , Humanos , Terapia com Luz de Baixa Intensidade/métodos , Masculino , Melanose/terapia , Rejuvenescimento , Luz Solar/efeitos adversos , Resultado do Tratamento
10.
J Drugs Dermatol ; 18(3): 246-250, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30909328

RESUMO

The purpose of this review is to discuss the disease process and wide variety of treatment options for psuedofolliculitis barbae (PFB), or razor bumps. PFB is caused by hair follicles penetrating the skin and causing an inflammatory response. PFB can occur to anyone who shaves, and is more likely in those with curly hair. PFB can cause significant hyperpigmentation and scarring, more noticeable in darker skin types. PFB can be treated with a variety of topical, systemic, or light/laser therapies. Minimal progress has been made in treating PFB in recent years, partially due to the success of well-established current treatments discussed in this review. The most effective treatments involve a multifaceted approach including behavioral changes in shaving habits as well as the use of topical therapies. J Drugs Dermatol. 2019;18(3):246-250.


Assuntos
Fármacos Dermatológicos/uso terapêutico , Doenças do Cabelo/terapia , Remoção de Cabelo/efeitos adversos , Terapia com Luz de Baixa Intensidade/métodos , Fotoquimioterapia/métodos , Administração Cutânea , Administração Oral , Antibacterianos/uso terapêutico , Face , Hábitos , Doenças do Cabelo/epidemiologia , Doenças do Cabelo/etiologia , Folículo Piloso/patologia , Folículo Piloso/efeitos da radiação , Humanos , Queratinas Específicas do Cabelo/genética , Queratinas Tipo II/genética , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
11.
Am J Mens Health ; 13(1): 1557988319825774, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30819069

RESUMO

Hair growing inside the skin and burrowing in the uppermost dermis, previously termed as "ingrowing hair," is a rarely reported cutaneous disorder. Up to July 31, 2018, only five cases have been reported, all were male. The authors report two Chinese Han men, 26-year-old and 31-year-old respectively, presenting with progressive extending black lines inside the skin on the right mandibular angle and the neck respectively. The black lines were finally demonstrated as growing beard hairs. The 26-year-old man was cured after the hair was pulled out, whereas the 31-year-old patient had re-occurrence after the initial hair was extracted and was cured finally by destroying the individual beard follicle. The authors would prefer the term of "intradermal growing hair" to "ingrowing hair" when describing the condition of hair growing inside the skin and extending in the uppermost dermis. Pulling out the growing hair, and sometimes destroying the beard follicle, may be of choice for its treatment.


Assuntos
Doenças do Cabelo/diagnóstico , Doenças do Cabelo/terapia , Adulto , China , Face , Humanos , Masculino , Pescoço , Recidiva
12.
Cutis ; 103(1): 46-50, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30758335

RESUMO

Pityriasis amiantacea (PA) is a hair disorder characterized by matting of multiple hair shafts, typically occurring as an idiopathic condition. A 67-year-old woman with multiple myeloma who developed PA following a bone marrow transplant with melphalan conditioning is described.She noted initial changes in scalp hair regrowth 4 weeks posttransplant. During the next 4 months she developed multiple lesions of PA that rapidly responded to management, including mineral oil under occlusion in the evening followed by daily shampooing with alternating coal tar, salicylic acid, and ketoconazole shampoos. We review medications that have been associated with PA and conditions related to PA, including atopic dermatitis, bacterial infection, fungal infection, psoriasis, and seborrheic dermatitis. Our patient developed PA that was associated with either melphalan conditioning, bone marrow transplant, or both.


Assuntos
Transplante de Medula Óssea/efeitos adversos , Doenças do Cabelo/terapia , Mieloma Múltiplo/terapia , Pitiríase/terapia , Idoso , Feminino , Doenças do Cabelo/etiologia , Humanos , Pitiríase/etiologia
13.
Exp Dermatol ; 28(5): 517-527, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30706973

RESUMO

Human recorded history is littered with attempts to improve the perceived appearance of scalp hair. Throughout history, treatments have included both biological and chemical interventions. Hair "quality" or "perceived appearance" is regulated by multiple biological intervention opportunities: adding more hairs by flipping follicles from telogen to anagen, or delaying anagen follicles transiting into catagen; altering hair "apparent amount" by modulating shaft diameter or shape; or, in principle, altering shaft physical properties changing its synthesis. By far the most common biological intervention strategy today is to increase the number of hairs, but to date this has proven difficult and has yielded minimal benefits. Chemical intervention primarily consists of active material surface deposition to improve shaft shine, fibre-fibre interactions and strength. Real, perceptible benefits will best be achieved by combining opportunity areas across the three primary sciences: biology, chemistry and physics. Shaft biogenesis begins with biology: proliferation in the germinative matrix, then crossing "Auber's Critical Line" and ceasing proliferation to synthesize shaft components. Biogenesis then shifts to oxidative chemistry, where previously synthesized components are organized and cross-linked into a shaft. We herein term the crossing point from biology to chemistry as "The Orwin Threshold." Historically, hair biology and chemistry have been conducted in different fields, with biological manipulation residing in biomedical communities and hair shaft chemistry and physics within the consumer care industry, with minimal cross-fertilization. Detailed understanding of hair shaft biogenesis should enable identification of factors necessary for optimum hair shaft production and new intervention opportunities.


Assuntos
Doenças do Cabelo/terapia , Cabelo/fisiologia , Animais , Diferenciação Celular , Proliferação de Células , Cabelo/ultraestrutura , Folículo Piloso , Humanos , Comunicação Interdisciplinar , Lipídeos , Microscopia Eletrônica de Varredura , Modelos Biológicos , Fenótipo , Couro Cabeludo/fisiologia
15.
J Am Acad Dermatol ; 80(5): 1179-1196, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-29660422

RESUMO

Cytotoxic chemotherapies, molecularly targeted therapies, immunotherapies, radiotherapy, stem cell transplants, and endocrine therapies may lead to hair disorders, including alopecia, hirsutism, hypertrichosis, and pigmentary and textural hair changes. The mechanisms underlying these changes are varied and remain incompletely understood, hampering the development of preventive or therapeutic guidelines. The psychosocial impact of chemotherapy-induced alopecia has been well documented primarily in the oncology literature; however, the effect of other alterations, such as radiation-induced alopecia, hirsutism, and changes in hair color or texture on quality of life have not been described. This article reviews clinically significant therapy-related hair disorders in oncology patients, including the underlying pathophysiological mechanisms, severity grading scales, patient-reported quality of life questionnaires, management strategies, and future translational research opportunities.


Assuntos
Antineoplásicos/efeitos adversos , Crioterapia , Doenças do Cabelo/etiologia , Neoplasias/terapia , Radioterapia/efeitos adversos , Alopecia/etiologia , Alopecia/prevenção & controle , Doenças do Cabelo/psicologia , Doenças do Cabelo/terapia , Humanos , Imunoterapia/efeitos adversos , Terapia de Alvo Molecular/efeitos adversos , Transtornos da Pigmentação/etiologia , Qualidade de Vida , Índice de Gravidade de Doença
16.
J Am Acad Dermatol ; 80(5): 1199-1213, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-29660423

RESUMO

With increasing survival rates across all cancers, survivors represent a growing population that is frequently affected by persistent or permanent hair growth disorders as a result of systemic therapies, radiotherapy, surgical procedures, and therapeutic transplants. These hair disorders include persistent chemotherapy-induced alopecia, persistent radiotherapy-induced alopecia, endocrine therapy-induced alopecia and hirsutism, postsurgery alopecia and localized hypertrichosis, and persistent stem cell transplantation and targeted therapy-induced alopecia. The information contained in this continuing medical education series should facilitate a better understanding on hair disorders in cancer survivors so that adequate support and therapies may be provided.


Assuntos
Sobreviventes de Câncer , Doenças do Cabelo/etiologia , Doenças do Cabelo/terapia , Alopecia/etiologia , Alopecia/patologia , Alopecia/terapia , Antineoplásicos/efeitos adversos , Sobreviventes de Câncer/psicologia , Hirsutismo/induzido quimicamente , Hirsutismo/terapia , Humanos , Hipertricose/etiologia , Hipertricose/terapia , Qualidade de Vida , Radioterapia/efeitos adversos
17.
Indian J Dermatol Venereol Leprol ; 84(5): 528-538, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30027913

RESUMO

Hair disorders are common in clinical practice and depending upon social and ethnic norms, it can cause significant psychosocial distress. Hair growth, cycling and density are regulated by many endogenous factors, mainly circulating hormones. Thus, diseases affecting the endocrine system can cause varied changes in physiological hair growth and cycling. Diagnosis and treatment of these disorders require a multidisciplinary approach involving a dermatologist, gynecologist and an endocrinologist. In this review, we briefly discuss the influence of hormones on the hair cycle and hair changes in various endocrine disorders.


Assuntos
Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/epidemiologia , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/epidemiologia , Alopecia/diagnóstico , Alopecia/epidemiologia , Alopecia/terapia , Doenças do Sistema Endócrino/terapia , Feminino , Doenças do Cabelo/terapia , Hirsutismo/diagnóstico , Hirsutismo/epidemiologia , Hirsutismo/terapia , Humanos , Hipertricose/diagnóstico , Hipertricose/epidemiologia , Hipertricose/terapia , Masculino
18.
Am J Clin Dermatol ; 19(4): 517-527, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29352423

RESUMO

In the United States, an increasing number of individuals are identifying as transgender. Males at birth who identify as females are called male-to-female (MTF) transgender individuals or trans women, and females at birth who identify as males are called female-to-male (FTM) transgender individuals or trans men. The transgender patient population possess unique health concerns disparate from those of the general populace. Exogenous hormone therapy for transgender patients leads to changes in the distribution and pattern of hair growth. Exogenous testosterone can lead to male pattern hair loss and hirsutism, while estrogen therapy usually results in decreased facial and body hair growth and density. A thorough understanding of the hormonal treatments that may be used in transgender individuals as well the unique and complex biologic characteristics of the hair follicle is required for appropriate diagnosis, counseling and treatment of patients. The aim of this article is to provide a framework for understanding hair disorders in transgender individuals and effective treatment options.


Assuntos
Hormônios Esteroides Gonadais/efeitos adversos , Doenças do Cabelo/induzido quimicamente , Folículo Piloso/efeitos dos fármacos , Pessoas Transgênero , Feminino , Doenças do Cabelo/terapia , Humanos , Masculino
19.
Dermatol Clin ; 36(1): 11-16, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29108540

RESUMO

Men of all races are currently more open to requesting and undergoing treatments for a plethora of cosmetic concerns. Among the most common goals are procedures that combat the signs of aging, rejuvenate the skin, even out the color tone, address textural issues such as acne scarring, and improve hair disorders. Given the differences in cultural ideals and anatomic/physiologic differences in ethnic skin, it is important for physicians to be aware and sensitive to the nuances required when providing consultation and treating non-Caucasian men. The main cosmetic concerns of this patient cohort and their optimal management are presented.


Assuntos
Técnicas Cosméticas , Etnicidade , Doenças do Cabelo/terapia , Transtornos da Pigmentação/terapia , Envelhecimento da Pele , Acne Vulgar/complicações , Cicatriz/etiologia , Cicatriz/terapia , Estética , Face , Cabelo , Humanos , Masculino
20.
Medicine (Baltimore) ; 96(46): e8601, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29145277

RESUMO

RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption. She presented with watery diarrhea, elevated levels of liver enzymes, multiple episodes of recurrent bacterial infection, and mild mental retardation. She had facial dysmorphism, including prominent forehead and hypertelorism, and had woolly hair without trichorrhexis nodosa. DIAGNOSIS: Clinical features led to consideration of THES. Novel compound heterozygous nonsense mutations, c.1420G>T (p.Q474*) and c.3262G>T (p.E1088*), in the SKIV2L gene were identified in the patient, and decreased levels of SKIV2L protein expression were revealed by flow cytometry and confirmed by western blot analysis using patient peripheral blood mononuclear cells (PBMCs). INTERVENTIONS: Total parenteral nutrition was required from day 30 to day 100. Trimethoprim-sulfamethoxazole prophylaxis was started at the age of 7 years after multiple episodes of bacterial pneumonia and otitis media. OUTCOMES: Chronic diarrhea persisted for more than 10 years, but the symptoms gradually improved with age. At the age of 13 years, she started a normal diet in combination with oral nutritional supplementation and her height and weight were just below the 3rd percentile for healthy individuals. She developed secondary sex characteristics, and menarche occurred at the age of 12 years. Facial dysmorphism, including prominent forehead and hypertelorism, and woolly hair without trichorrhexis nodosa became noticeable as she matured. LESSONS: Physicians must be aware of THES when they encounter a patient with infantile diarrhea, hair abnormalities, immune deficiency, mental retardation, and liver disease. Moreover, flow cytometric detection of SKIV2L protein in PBMCs may facilitate early diagnosis.


Assuntos
DNA Helicases/genética , Diarreia Infantil/genética , Retardo do Crescimento Fetal/genética , Doenças do Cabelo/genética , Western Blotting , Códon sem Sentido , Diagnóstico Diferencial , Diarreia Infantil/diagnóstico , Diarreia Infantil/terapia , Fácies , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/terapia , Citometria de Fluxo , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/terapia , Humanos , Recém-Nascido , Japão , Nutrição Parenteral , Combinação Trimetoprima e Sulfametoxazol/uso terapêutico
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