RESUMO
RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. PATIENT CONCERNS: A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities. DIAGNOSES: Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results. INTERVENTIONS: The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age. OUTCOMES: No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present. LESSONS: The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.
Assuntos
Anodontia/sangue , Mama/anormalidades , Fissura Palatina/sangue , Displasia Ectodérmica/sangue , Dedos/anormalidades , Deformidades Congênitas da Mão/sangue , Obstrução dos Ductos Lacrimais/sangue , Deformidades Congênitas dos Membros/sangue , Unhas Malformadas/sangue , Transtornos da Pigmentação/sangue , Fatores de Transcrição/análise , Proteínas Supressoras de Tumor/análise , Adolescente , Anodontia/genética , Fissura Palatina/genética , Displasia Ectodérmica/genética , Deformidades Congênitas da Mão/genética , Humanos , Japão , Obstrução dos Ductos Lacrimais/genética , Deformidades Congênitas dos Membros/genética , Masculino , Mutação/genética , Unhas Malformadas/genética , Transtornos da Pigmentação/genética , Fatores de Transcrição/sangue , Proteínas Supressoras de Tumor/sangueRESUMO
Diffuse (generalized) plane xanthoma is a rare normolipemic xanthomatosis, frequently associated with multiple myeloma and monoclonal gammopathy. Its clinical presentation is well described, and in most cases, clinical suspicion is immediate. Rarely, it can clinically present with a diffuse and uniform yellowish discoloration, and in this context, several investigations are required to identify the correct diagnosis. We describe a case characterized by progressive diffuse yellow-orange discoloration lasting about 3 years and classified as carotenoderma in which reflectance confocal microscopy addressed the diagnosis and drove the correct selection of the biopsy site. Definitive diagnosis of diffuse (generalized) plane xanthoma was confirmed later by histological examination.
Assuntos
Microscopia Confocal , Mieloma Múltiplo/diagnóstico , Transtornos da Pigmentação/patologia , Pigmentação da Pele , Pele/patologia , Xantomatose/patologia , Idoso , Biomarcadores/sangue , Carotenoides/sangue , Erros de Diagnóstico , Feminino , Humanos , Mieloma Múltiplo/complicações , Transtornos da Pigmentação/sangue , Valor Preditivo dos Testes , Xantomatose/sangue , Xantomatose/etiologiaRESUMO
BACKGROUND: Linear cutaneous lupus erythematosus is a rare subtype of lupus erythematosus (LE) that develops linear lesions following the lines of Blaschko. Linear cutaneous lupus erythematosus may present as various subtypes of LE, including linear discoid lupus erythematosus. There are few reports about pigmentedlinear discoid lupus erythematosus in the literature. AIMS: We aimed to summarize the clinical and pathological features of patients with pigmented linear discoid lupus erythematosus following the lines of Blaschko. METHODS: Eighteen patients with pigmented linear discoid lupus erythematosus attending the outpatient department of the Dermatology, Peking Union Medical College Hospital, China, were enrolled in the study. We recorded clinical data including sex, age at onset, disease duration, location and distribution of the lesions, symptoms, trigger factors, antinuclear antibody (ANA) testing, therapy, and therapeutic responses. Histopathological features were also summarized. RESULTS: All 18 patients presented with well-defined brownish pigmented linear or segmental macules or plaques, following the lines of Blaschko. All the lesions were located on the head or neck. Unilaterally distributed lesions were found in 94.4% of patients. Two patients showed low titers of ANA in a speckled pattern. No systemic involvement or progression to systemic LE was noted. The patients were clinically diagnosed as pigmented lichen planus (55.6%), pigmented linear discoid lupus erythematosus (33.3%), and linear morphea (11.1%) before histopathological examination. LIMITATIONS: The study was retrospective and direct immunofluorescence was not performed. Not all patients' information was available and 4 patients were lost to follow-up because their contact information was changed. CONCLUSION: Pigmented linear discoid lupus erythematosus mostly occurs on the head and neck. It manifests as brownish macules along the lines of Blaschko. Differentiation between pigmented linear discoid lupus erythematosus and other dermatoses that have a linear distribution can be difficult both clinically and pathologically, but histological details can help distinguish them.
Assuntos
Lúpus Eritematoso Discoide/patologia , Transtornos da Pigmentação/patologia , Adolescente , Adulto , Anticorpos Antinucleares/sangue , Criança , China , Feminino , Cabeça , Humanos , Lúpus Eritematoso Discoide/sangue , Lúpus Eritematoso Discoide/complicações , Lúpus Eritematoso Discoide/terapia , Masculino , Pessoa de Meia-Idade , Pescoço , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/etiologia , Transtornos da Pigmentação/terapia , Estudos RetrospectivosRESUMO
BACKGROUND: The exact etiology of premature hair graying (PHG) remains unknown; however, oxidative stress is shown to be involved. Selenium, as an antioxidant, is widely known for its antiaging potentials. Moreover, PGH is more prevalent among addicts and because Lead is a common impurity found in illegal drug. AIMS: We evaluated the serum levels of lead and selenium in patients with PHG and compared it with a control group. PATIENTS/METHODS: In this cross-sectional study, 60 patients referred to Dermatology Clinic of Imam-Reza Hospital of Mashhad, Iran in 2015 were evaluated in two groups with and without PHG. Demographic information and disease characteristics, skin phenotype, and family history of PHG were recorded. Furthermore, 5 mL of brachial blood was drawn for measuring selenium and lead levels. RESULTS: The mean patients' age was 28.1 ± 4.8 years. Age, sex, occupation, and skin phenotype in individuals with and without PHG were not significantly different (P > .05) but family history of PHG was significantly higher in the patients with PHG (P = .001). Similarly, the number of white hairs was significantly higher (P < .001), and the age of onset of hair graying was significantly lower in patients with PHG (P < .001). Serum levels of selenium and lead were not significantly different between two groups (P < .05). However, the serum levels of lead in the patients with PHG were slightly higher. CONCLUSIONS: The results of this study showed that there was no significant difference in lead and selenium serum levels in patients with and without PHG.
Assuntos
Chumbo/sangue , Transtornos da Pigmentação/epidemiologia , Selênio/sangue , Adulto , Estudos de Casos e Controles , Estudos Transversais , Feminino , Cor de Cabelo , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Transtornos da Pigmentação/sangue , Fatores de Risco , Adulto JovemRESUMO
BACKGROUND: Pigmented lesions on the lips can be caused by physiological or pathological factors, along with exogenous or endogenous factors. Many patients with atopic dermatitis (AD) and labial pigmentation are seen in clinical practice. The aim of our study was to further explore the association of labial pigmentation and AD. METHODS: We performed a retrospective chart review of patients who visited the Department of Dermatology at Kyung Hee Medical Center, Seoul, Korea, from January 1 to December 31, 2016. The study consisted of 178 patients with AD and a control group of 178 age- and sex-matched patients without AD. RESULTS: The patients with AD had both a significantly higher prevalence of labial pigmented lesions and a significantly higher number of labial pigmented lesions than was observed in the control group. Moreover, the pigmented lesions were found mainly in the middle section of the upper lip and showed multifocal distribution. The patients with AD and labial pigmentation were significantly younger at the onset of AD, showed a greater association with allergic disorder, and had a higher immunoglobulin E (IgE) level than patients without labial pigmentation. CONCLUSION: Our findings strongly suggest that labial pigmentation occurs in patients with AD. Although labial pigmentation was not present in all patients with AD, this might be a particularly helpful diagnostic feature of AD in Asian patients.
Assuntos
Dermatite Atópica/epidemiologia , Lábio , Transtornos da Pigmentação/epidemiologia , Idade de Início , Povo Asiático , Estudos de Casos e Controles , Comorbidade , Dermatite Atópica/sangue , Feminino , Humanos , Doenças do Sistema Imunitário/epidemiologia , Imunoglobulina E/sangue , Masculino , Transtornos da Pigmentação/sangue , Prevalência , República da Coreia/epidemiologia , Estudos Retrospectivos , Adulto JovemAssuntos
Antídotos/efeitos adversos , Cianetos/intoxicação , Hidroxocobalamina/efeitos adversos , Transtornos da Pigmentação/induzido quimicamente , Antídotos/uso terapêutico , Humanos , Hidroxocobalamina/uso terapêutico , Masculino , Pessoa de Meia-Idade , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/urina , Intoxicação/sangue , Intoxicação/urina , Lesão por Inalação de Fumaça/tratamento farmacológicoRESUMO
BACKGROUND: It is unusual for purpura to emerge as a result of drinking alcohol. Such a peculiarity was observed in a 55-year-old man with a 30-year history of heavy alcohol use. CASE PRESENTATION: The Caucasian patient was studied for 11 years during several detoxification treatments. During the last 2 years of that period, purpuric rashes were newly observed. The asymptomatic purpura was limited to both lower limbs, self-limiting with abstinence, and reoccurring swiftly with alcohol relapse. This sequence was observed six times, suggesting a causative role of alcohol or its metabolites. A skin biopsy revealed histological features of purpura pigmentosa progressiva (termed Schamberg's disease). Additionally, alcoholic fatty liver disease markedly elevated serum immunoglobulins (immunoglobulin A and immunoglobulin E), activated T-lymphocytes, and increased C-reactive protein. In addition, moderate combined (cellular and humoral) immunodeficiency was found. Unlike the patient's immunoglobulin A level, his serum immunoglobulin E level fell in the first days of abstinence, which corresponded to the time of purpura decline. Systemic vasculitis and clotting disorders were excluded. The benign character of the purpura was supported by missing circulating immune complexes or complement activation. An alcohol provocation test with vinegar was followed by the development of fresh "cayenne pepper" spots characteristic of Schamberg's disease. CONCLUSIONS: This case report demonstrates that Schamberg's disease can be strongly related to alcohol intake, in our patient most likely as a late complication of severe alcoholism with alcoholic liver disease. Immunologic disturbances thereby acquired could have constituted a basis for a hypersensitivity-like reaction after ingestion of alcohol. Schamberg's disease induction by vinegar may point to an involvement of acetate, a metabolite of ethanol.
Assuntos
Transtornos Relacionados ao Uso de Álcool/complicações , Imunoglobulinas/sangue , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/etiologia , Púrpura/sangue , Púrpura/etiologia , Transtornos Relacionados ao Uso de Álcool/sangue , Humanos , Masculino , Pessoa de Meia-Idade , RecidivaAssuntos
Quimiocina CCL17/sangue , Citocinas/análise , Transtornos da Pigmentação/sangue , Púrpura/sangue , Biomarcadores/análise , Biomarcadores/sangue , Epiderme/química , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Pigmentação/patologia , Púrpura/patologia , Linfopoietina do Estroma do TimoRESUMO
Pigmented purpuric dermatosis (PPD) is characterized by petechial and pigmented macules on the lower limbs. The aetiology of PPD remains obscure. Some reports have suggested an association between PPD and hepatitis B or C infection. This prospective case-control study was designed to investigate the association of positive hepatitis B or C serology with PPD. A total of 60 PPD patients and 230 randomly selected controls were enrolled. Sera from all patients and controls were tested for liver function tests (LFT), hepatitis B surface antigen (HBS Ag), and hepatitis C virus antibody (HCV Ab). The prevalence of HBS Ag in patients with PPD and the controls was 3 per cent (5/60) and 4.3 per cent (10/230), respectively. The prevalence of HCV Ab was 1.7 per cent (1/60) and 1.3 per cent (3/230) among patients and controls, respectively. No statistically significant difference was noted in the prevalence of positive hepatitis B or C serology (P-values 0.73 and 0.58, respectively). No statistically significant difference in LFT was observed between the two groups. Therefore, the authors believe it is unlikely that HBV or HCV are directly involved in the pathogenesis of PPD.
Assuntos
Hepatite B/epidemiologia , Hepatite C/epidemiologia , Transtornos da Pigmentação/epidemiologia , Púrpura/epidemiologia , Adulto , Estudos de Casos e Controles , Feminino , Hepacivirus/imunologia , Hepatite B/sangue , Antígenos de Superfície da Hepatite B/sangue , Hepatite C/sangue , Anticorpos Anti-Hepatite C/sangue , Humanos , Irã (Geográfico)/epidemiologia , Testes de Função Hepática , Masculino , Pessoa de Meia-Idade , Transtornos da Pigmentação/sangue , Estudos Prospectivos , Púrpura/sangue , Estudos Soroepidemiológicos , Testes SorológicosAssuntos
Transtornos do Crescimento/etiologia , Hipotireoidismo/diagnóstico , Biomarcadores/sangue , Carotenoides/sangue , Pré-Escolar , Feminino , Transtornos do Crescimento/sangue , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/complicações , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/etiologiaAssuntos
Bilirrubina/sangue , Transtornos da Pigmentação/etiologia , Lesões por Radiação/etiologia , Humanos , Recém-Nascido , Icterícia Neonatal/terapia , Masculino , Fototerapia/efeitos adversos , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/diagnóstico , Lesões por Radiação/sangue , Lesões por Radiação/diagnóstico , SíndromeRESUMO
Carotenemia in infancy is a relatively rare but benign condition, invariably of dietary origin, that can be confused with jaundice. It is characterized by an abnormal yellowish orange pigmentation of the skin, most prominently seen in the palms, soles, and naso-labial folds. Infant feeding patterns have shown an increasing trend toward the usage of homogenized and pureed vegetables as well as meat-based commercial preparations. Whether this is reflected in an increased incidence of carotenemia in this age group still remains unclear. We report a series of infants identified by a retrospective review of records, observed over a 3-year period (1999-2002) in a tertiary children's hospital, who developed the condition that resolved spontaneously without intervention, as they grew older, on a changing diet.
Assuntos
Carotenoides/sangue , Alimentos Infantis , Transtornos da Pigmentação/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Icterícia/diagnóstico , Masculino , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/epidemiologia , Prevalência , Estudos RetrospectivosRESUMO
Carney complex (CNC) is a unique multiple endocrine neoplasia syndrome (MIM 160980) which is characterized by unusual biochemical features (chronic hypersomatotropinemia and paradoxical responses of cortisol production to glucocorticoids) and multi-tissue involvement. The gene coding for the protein kinase A (PKA) type 1alpha regulatory subunit, PRKAR1A, had been mapped to 17q22-24, one of the genetic loci involved in CNC, and allelic analysis using probes from this chromosomal region revealed consistent changes in CNC tumors. Sequencing of the PRKAR1A gene in over 100 kindreds showed a number of mutations; in almost all cases, the sequence change was predicted to lead to a premature stop codon, and mutant mRNAs were subject to nonsense-mediated mRNA decay. In CNC cells, PKA activity assays showed increased stimulation by cAMP. Few mutations that did not lead to a premature stop codon have been described; they are also associated with increased PKA activity. PRKAR1A has been investigated in sporadic endocrine tumors; it does not appear to be mutated in pituitary adenomas, but both thyroid and adrenal neoplasms have been found to harbor somatic mutations of this gene. Animal models of the disease have been developed. CNC is the first human disease caused by mutations of one of the subunits of the PKA holoenzyme, a critical component of numerous cellular signaling systems. This has wide implications for cAMP involvement in endocrine tumorigenesis.
Assuntos
Acromegalia/genética , Neoplasias das Glândulas Suprarrenais/genética , Proteínas Quinases Dependentes de AMP Cíclico/genética , Neoplasia Endócrina Múltipla/genética , Mixoma/genética , Neoplasias Primárias Múltiplas/genética , Acromegalia/sangue , Acromegalia/complicações , Acromegalia/patologia , Neoplasias das Glândulas Suprarrenais/sangue , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/patologia , Animais , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico , Modelos Animais de Doenças , Hormônio do Crescimento/sangue , Humanos , Hidrocortisona/sangue , Neoplasia Endócrina Múltipla/sangue , Neoplasia Endócrina Múltipla/complicações , Neoplasia Endócrina Múltipla/patologia , Mixoma/sangue , Mixoma/complicações , Mixoma/patologia , Neoplasias Primárias Múltiplas/sangue , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/patologia , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/genética , Transtornos da Pigmentação/patologia , RNA Mensageiro/análise , SíndromeRESUMO
A low-dose mitotane (MT) regimen was evaluated as a pharmacological approach for correcting the severe hypercortisolism in a young woman affected by Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD). In the first 12 week period, the MT daily dose was progressively increased from 0.5 to 4.0 g/day. This dosage was maintained for an additional 16 weeks (cumulative dose 602 g, plasma MT maximum level 12 microg/ml), and then stopped because of sustained signs of hypoadrenalism requiring prednisone replacement. Complete regression of seborrhea, acne, and plethora was observed after 8 weeks of treatment (cumulative dose 95 g). Regular menses returned after 13 weeks (cumulative dose 197 g, plasma MT 8 microg/ml). Profound decrease of both serum cortisol (from 615 to 220 nmol/l) and urinary free cortisol (UFC) values (from 1498 to 477 nmol/day) was noted after 16 weeks of treatment (cumulative dose 314 g, plasma MT 8 microg/ml). MT treatment was associated with mild gastric discomfort and reversible increase of cholesterol plasma levels. Low serum cortisol and UFC were still observed 41 weeks after MT was discontinued (plasma MT 0.2 microg/ml). Our report demonstrates that low dose MT treatment may be a safe and effective modality for a sustained correction of hypercortisolism by PPNAD in subjects with CNC waiting for surgery.
Assuntos
Doenças do Córtex Suprarrenal/tratamento farmacológico , Antineoplásicos Hormonais/uso terapêutico , Hidrocortisona/sangue , Mitotano/uso terapêutico , Neoplasia Endócrina Múltipla/tratamento farmacológico , Transtornos da Pigmentação/tratamento farmacológico , Doenças do Córtex Suprarrenal/sangue , Doenças do Córtex Suprarrenal/patologia , Glândulas Suprarrenais/diagnóstico por imagem , Glândulas Suprarrenais/patologia , Adulto , DNA/genética , Feminino , Humanos , Hidrocortisona/urina , Assistência de Longa Duração , Metalotioneína/sangue , Neoplasia Endócrina Múltipla/sangue , Neoplasia Endócrina Múltipla/patologia , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/patologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Esteroides/sangue , Síndrome , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Serum carotenoids consist of a variety of different compounds. Xanthoderma may result from an increased concentration of any of the carotenoids. METHODS AND RESULTS: High-performance liquid chromatography of serum carotenoids shows that a normal chromatogram contains mainly beta-carotene, lutein and lycopene. Serum alpha- and beta-carotene, beta-cryptoxanthin, lycopene, lutein and zeaxanthin were found to be increased in the investigation of hypercarotenaemia. CONCLUSION: Patients presenting with possible xanthoderma should have a dietary history taken and serum sent for carotenoid analysis.
Assuntos
Carotenoides/sangue , beta Caroteno/análogos & derivados , beta Caroteno/sangue , Cromatografia Líquida de Alta Pressão , Criptoxantinas , Dieta , Humanos , Luteína/sangue , Licopeno , Transtornos da Pigmentação/sangue , Transtornos da Pigmentação/etiologia , XantofilasRESUMO
Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder that causes erythrokeratoderma, vascularizing keratitis, and neurosensory deafness. We report a form of this syndrome in a patient with no evidence of keratitis. In addition this individual had clinical and biochemical evidence of carotenaemia. Carotenaemia occurring in association with KID syndrome has not been reported previously.