Subject(s)
Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/etiology , Sclerotherapy , Lower ExtremityABSTRACT
Abstract Background: Transient pigmentary lines of the newborn are uncommon cutaneous lesions of unknown etiology. To date, only a few cases have been described. Case report: A patient with a combination of transient pigmentary lines and ocular malformation is described. Molecular analysis of the SRY-box 2 (SOX2) and MIFT genes was conducted to rule out any monogenetic etiology. Conclusions: Worldwide, this is the eighth case of transient pigmentary lines of the newborn reported, and the first associated with anophthalmia. No mutations in the analyzed genes (SOX2 and MIFT) were identified. Therefore, somatic mutations could be responsible for this anomaly.
Resumen Introducción: Las líneas transitorias pigmentarias del recién nacido son lesiones cutáneas poco comunes. A la fecha, pocos casos se han descrito. Caso clínico: Paciente neonato con la combinación de líneas transitorias hiperpigmentadas y una malformación ocular. Se realizó secuenciación molecular de los genes SOX2 y MIFT para descartar una etiología monogénica. Conclusiones: En todo el mundo, este es el octavo caso reportado de líneas transitorias hiperpigmentadas del recién nacido, y el primero asociado con anoftalmia. No se identificaron mutaciones en los genes estudiados (SOX2 y MIFT). Por lo tanto, las mutaciones somáticas pueden ser la causa de la afección.
Subject(s)
Humans , Infant, Newborn , Anophthalmos , Hyperpigmentation , Anophthalmos/diagnosis , Anophthalmos/genetics , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , MutationABSTRACT
RESUMEN Presentamos un caso típico de Dermatosis Terra Firma-Forme en un adolescente sano de 13 años de edad, visto recientemente en el Servicio de Dermatología de nuestro hospital. Con este caso queremos mostrar las características clínicas de esta dermatosis que con frecuencia no es correctamente diagnosticada o bien pasa desapercibida durante años lo que origina preocupación y ansiedad en el paciente además de pruebas diagnósticas innecesarias. Su diagnóstico es clínico apoyado en la dermatoscopía y el tratamiento sencillo, presentando escasas recidivas.
SUMMARY We report a typical case of a Terra Firma-Forme Dermatosis in a 13-year-old healthy male recently seen in the Dermatology Department of our hospital. The aim of the authors is to show clinical features of this frequently misdiagnosed and underreported dermatosis causing concern and anxiety in the patient as well as unnecessary diagnostic tests. Its diagnosis is clinical supported by dermoscopy and its simple treatment presents few recurrences.
Subject(s)
Humans , Male , Adolescent , Skin Diseases/diagnosis , Hyperpigmentation/diagnosis , Keratinocytes/pathology , Hyperpigmentation/therapy , Diagnosis, DifferentialABSTRACT
ABSTRACT Objective: To describe the morphology of the supra- and infraumbilical linea nigra in puerperal women. Methods: The study was conducted from September 2017 to April 2018, and included 157 puerperal women admitted for childbirth care at the Obstetrics Department of a public maternity hospital of the city of São Paulo (SP), Brazil. The abdomen of subjects was photographed on the first or second day postpartum, with the patient lying symmetrically in dorsal decubitus at a standardized distance. Contrast was slightly adjusted and the morphological pattern of supra and infraumbilical linea nigra in the proximity of the umbilical scar was characterized. The images were independently analyzed by two researchers and only the matching results from both observers were used. Results: Of the 157 observed cases, 139 (88.5%) images provided concordant results between the two researchers. Excluding 41 cases of absence or poor definition of the linea nigra, 98 images were analyzed. Supra- and infraumbilical linea nigra were analyzed separately and classified according to three directions (left, center and right of the umbilical scar). The combination of the supra- and infraumbilical images resulted in the formation of nine distinct patterns, being the most prevalent, in primiparous (72.2%) and multiparous women (50.0%), and the authors named as "anticlockwise spiralization of the linea nigra". Conclusion: The analysis of supra- and infraumbilical linea nigra in puerperal women showed a predominance of what the authors named "anti-clockwise spiralization of the linea nigra sign".
RESUMO Objetivo: Descrever a morfologia da linea nigra supra e infraumbilical em puérperas. Métodos: O estudo foi realizado no período de setembro de 2017 a abril de 2018 e incluiu 157 puérperas admitidas para o parto no Serviço de Obstetrícia de uma maternidade pública da cidade de São Paulo (SP). O abdome das pacientes foi fotografado no primeiro ou segundo dia pós-parto, com a paciente deitada simetricamente em decúbito dorsal a uma distância padronizada. O contraste foi ligeiramente ajustado, e o padrão morfológico da linea nigra supra e infraumbilical na proximidade da cicatriz umbilical foi caracterizado. As imagens foram analisadas independentemente por dois pesquisadores, e apenas os resultados concordantes dos dois observadores foram utilizados. Resultados: Dos 157 casos observados, 139 (88,5%) imagens apresentaram resultados concordantes entre os dois pesquisadores. Excluindo 41 casos de ausência ou má definição da linea nigra, 98 imagens foram analisadas. As linea nigra supra e infraumbilicais foram analisadas separadamente e classificadas de acordo com três direções (esquerda, centro e direita da cicatriz umbilical). A combinação das imagens supra e infraumbilicais resultou na formação de nove padrões distintos, sendo os mais prevalentes nas primíparas (72,2%) e multíparas (50,0%), o que os autores denominaram "espiralamento anti-horário da linea nigra". Conclusão: A análise das linea nigra supra e infraumbilical em puérperas mostrou predominância do que os autores denominaram "sinal do espiralamento anti-horário da linea nigra".
Subject(s)
Humans , Female , Skin/pathology , Umbilicus , Pregnancy/physiology , Skin Pigmentation , Hyperpigmentation/diagnosis , BrazilABSTRACT
SUMMARY Oral melanoacanthoma is a mucocutaneous, pigmented, rare, benign, and probably reactive lesion. This paper reports for the first time in the literature a case of multifocal oral melanoacanthoma in a patient diagnosed with Addison's disease and concomitant Graves' disease with hyperthyroidism. The patient presented with oral pigmented lesions, which were hypothesized to be mucosal pigmentation associated with Addison's disease. Due to their unusual clinical pattern, these oral lesions were biopsied and diagnosed as oral melanoacanthoma on histopathology and immunohistochemistry for HMB-45. At the moment of this report, the patient was being treated for her systemic conditions, but the lesions had not regressed. Reactive hyperpigmentation of the skin and mucous membranes may be found in Addison's disease and hyperthyroidism. This case reinforces the hypothesis of a reactive nature for oral melanoacanthoma and highlights the need for investigation of endocrine disorders in patients with multifocal oral melanoacanthoma.
Subject(s)
Humans , Female , Middle Aged , Skin Neoplasms/pathology , Mouth Neoplasms/pathology , Acanthoma/pathology , Skin Neoplasms/complications , Skin Neoplasms/diagnosis , Biopsy , Mouth Neoplasms/complications , Mouth Neoplasms/diagnosis , Addison Disease/complications , Graves Disease/complications , Hyperpigmentation/diagnosis , Hyperpigmentation/etiology , Acanthoma/complications , Acanthoma/diagnosisABSTRACT
Introducción: El síndrome H es una enfermedad genética extremadamente rara de compromiso multisistémico, el cual clínicamente puede ser reconocido de forma precoz, ofreciendo de manera oportuna un seguimiento, tratamiento específico y asesoramiento genético. Objetivo: Presentar un caso con características «típicas del síndrome H¼ para favorecer su identificación precoz. Caso clínico: Varón de 8 años de edad, evaluado por tumoraciones testiculares, lesiones dérmicas tipo hiperpigmentación con hipertricosis, retraso del lenguaje, talla baja, deformidades articulares, hipoacusia neurosensorial bilateral, anemia, hipergammaglobulinemia y alteraciones óseas. En los estudios histológicos de la piel y las masas testiculares se observó infiltración linfoplasmocitaria. El secuenciamiento del gen SLC29A3 detectó una mutación homocigota c.1087 C>T (p.Arg363Trp; rs387907067) concluyente con el síndrome H, la cual ha sido reportada previamente. Conclusiones: Este es el primer caso reportado en Latinoamérica del síndrome H, cuyas características descritas son parte del espectro clínico. El hallazgo clínico principal, que orienta al diagnóstico, es la hiperpigmentación acompañada de hipertricosis.
Introduction: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. Objective: To present a clinical case with "typical" characteristics of H Syndrome. Clinical case: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). Conclusions: These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.
Subject(s)
Humans , Male , Child , Testicular Neoplasms/genetics , Hyperpigmentation/genetics , Nucleoside Transport Proteins/genetics , Hypertrichosis/genetics , Syndrome , Testicular Neoplasms/diagnosis , Testicular Neoplasms/pathology , Body Height/genetics , Hyperpigmentation/diagnosis , Hyperpigmentation/pathology , Hearing Loss, Sensorineural/genetics , Hypertrichosis/diagnosis , Hypertrichosis/pathology , Language Development Disorders/genetics , Latin America , MutationABSTRACT
El síndrome de Laugier-Hunziker es un trastorno pigmentario adquirido poco frecuente, caracterizado por presentar lesiones hiperpigmentadas cutaneomucosas idiopáticas que pueden asociarse a melanoniquia longitudinal. A pesar de ser considerado una enfermedad benigna sin manifestaciones sistémicas ni potencial maligno, es clave realizar el diagnóstico diferencial con otros trastornos pigmentarios, en especial con el síndrome de Peutz-Jeghers. Se presenta aquí el caso de un paciente con este síndrome poco frecuente. (AU)
Laugier-Hunziker syndrome is a rare acquired pigmentary disorder that is characterized by idiopathic mucocutaneous pigmentation that may be associated with longitudinal melanonychia. Although this syndrome is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders, especially Peutz-Jeghers syndrome. We report the case of a patient with this unusual syndrome. (AU)
Subject(s)
Humans , Male , Aged , Hyperpigmentation/diagnosis , Lip Diseases/diagnosis , Skin Diseases/diagnosis , Skin Diseases/pathology , Peutz-Jeghers Syndrome/diagnosis , Hyperpigmentation/pathology , Diagnosis, Differential , Lip Diseases/pathology , Mouth Diseases/diagnosis , Mouth Diseases/pathologyABSTRACT
Laugier-Hunziker syndrome is a rare benign idiopathic condition characterized by acquired macular pigmentation of lips and buccal mucosa, often accompanied with melanonychia. The main concern with this condition is to rule out other differential diagnosis with systemic repercussions and similar hyperpigmentation patterns, such as Peutz-Jeghers syndrome, adrenal insufficiency and melanoma. We report a 58-year-old female with a 20-year history of Sjögrens syndrome, presenting with melanonychia and hyperpigmentation in the buccal mucosa. She had no relevant medication history and is a non-smoker. The patient denied any other symptoms. The histopathology confirmed the diagnosis of Laugier-Hunziker syndrome.
Subject(s)
Humans , Female , Middle Aged , Sjogren's Syndrome/complications , Hyperpigmentation/diagnosis , Mouth Diseases/diagnosis , Nail Diseases/diagnosis , Syndrome , Hyperpigmentation/complications , Mouth Diseases/complications , Nail Diseases/complicationsSubject(s)
Aged , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/etiology , Male , Skin Pigmentation , Taxoids/adverse effectsABSTRACT
Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison’s disease and Peutz-Jeghers syndrome.
.Subject(s)
Humans , Female , Middle Aged , Hyperpigmentation/diagnosis , Mouth Diseases/diagnosis , Nail Diseases/diagnosis , Syndrome , Diagnosis, Differential , Mouth MucosaABSTRACT
A Síndrome de Laugier-Hunziker é uma doença adquirida, caracterizada por hiperpigmentação macular da mucosa oral e lábios, frequentemente associada à melanoníquia longitudinal. Não está associada a manifestações sistêmicas ou a malignidades, e o seu conhecimento é importante no diagnóstico diferencial das hiperpigmentações mucocutâneas, achado frequente na prática clínica. Relatamos um caso de uma paciente de 56 anos, cujo diagnóstico foi feito com base nos achados clínicos e histopatológicos e pela ausência de pólipos à colonoscopia (AU)
The Laugier-Hunziker syndrome is an acquired disorder characterized by macular hyperpigmentation of the oral mucosa and lips, often associated with longitudinal melanonychia. It is not associated with systemic manifestations or malignancies and knowledge of it is important in the differential diagnosis of mucocutaneous hyperpigmentation, a common finding in clinical practice. We report a case of a 56 year-old patient, whose diagnosis was based on clinical and histopathological findings and the absence of polyps at colonoscopy (AU)
Subject(s)
Humans , Female , Middle Aged , Syndrome , Hyperpigmentation/diagnosis , Mouth Diseases/diagnosis , Nail Diseases/diagnosis , Diagnosis, DifferentialABSTRACT
Background: Early lesions of vitiligo can be confused with various other causes of hypopigmentation and depigmentation. Few workers have utilized dermoscopy for the diagnosis of evolving lesions of vitiligo. Aim: To analyze the dermoscopic findings of evolving lesions in diagnosed cases of vitiligo and to correlate them histopathologically. Methods: Dermoscopy of evolving lesions in 30 diagnosed cases of vitiligo was performed using both polarized light and ultraviolet light. Result: On polarized light examination, the pigmentary network was found to be reduced in 12 (40%) of 30 patients, absent in 9 (30%), and reversed in 6 (20%) patients; 2 patients (6.7%) showed perifollicular hyperpigmentation and 1 (3.3%) had perilesional hyperpigmentation. A diffuse white glow was demonstrable in 27 (90%) of 30 patients on ultraviolet light examination. Melanocytes were either reduced in number or absent in 12 (40%) of 30 patients on histopathology. Conclusion: Pigmentary network changes, and perifollicular and perilesional hyperpigmentation on polarized light examination, and a diffuse white glow on ultraviolet light examination were noted in evolving vitiligo lesions. Histopathological examination was comparatively less reliable. Dermoscopy appears to be better than routine histopathology in the diagnosis of evolving lesions of vitiligo and can obviate the need for a skin biopsy.
Subject(s)
Dermoscopy/methods , Dermoscopy/statistics & numerical data , Humans , Hyperpigmentation/diagnosis , /radiotherapy , Patient Selection , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/radiotherapy , Ultraviolet Therapy/methods , Vitiligo/diagnosis , Vitiligo/radiotherapyABSTRACT
El síndrome de Laugier-Hunziker es un raro desorden adquirido caracterizado por una hiperpigmentación difusa de la mucosa oral y melanoniquia en adultos. Aparecen lesiones maculares menores de 5 mm de diámetro. Está considerada como una enfermedad benigna sin manifestación sistémica o con potencial maligno. Por lo tanto, es importante descartar otros trastornos pigmentarios mucocutáneos que requieran manejo médico. Se presenta el caso de una paciente de 66 años con síndrome de Laugier-Hunziker con compromiso de uñas, manos, pies y mucosa oral, es el segundo caso reportado en Perú en los dos últimos años.
Laugier-Hunriker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. It's considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it's important to rule out other mucocutaneous pigmentary disorders that do require medical management. We present one case of66 year-old woman with Laugier-Hunziker syndrome with compromise of nails, hands, feet and oral mucosa, it's a second case reported in Peru last two years.
Subject(s)
Humans , Female , Middle Aged , Hyperpigmentation/diagnosis , Hyperpigmentation/pathology , Medical Illustration , PeruSubject(s)
Dermatitis/diagnosis , Dermatitis/etiology , Dermatitis/pathology , Diagnosis, Differential , Drug Eruptions/diagnosis , Drug Eruptions/etiology , Drug Eruptions/pathology , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/etiology , Hyperpigmentation/pathology , Skin/injuries , Skin/pathologyABSTRACT
Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the fl exures. Many variants of this condition and its overlap with other reticulate pigmentary disorders have been reported in the literature. We present here two cases of DDD with follicular localization, both clinically and histologically. It was associated with ichthyosis vulgaris in one case. Follicular DDD is an uncommon variant of this evolving dermatosis. Our report supports the possible role for disordered follicular keratinisation in its pathogenesis.
Subject(s)
Adult , Female , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/therapy , Male , Skin Diseases/diagnosis , Skin Diseases/therapy , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/therapy , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/therapy , Young AdultSubject(s)
Adult , Age Factors , Asian People , Female , Hand/pathology , Humans , Hyperpigmentation/diagnosis , Melanocytes/pathologyABSTRACT
Riga-Fede disease is a rare, benign disorder characterized by reactive ulceration of the oral mucosa associated with repetitive dental traumatism. It was first described in children with neurologic disorders and is very rare in adults. This case report describes the occurrence of a large ulcer of the tongue, resembling squamous cell carcinoma, in an adult with hemiparesis. The lesion cleared after neurologic recovery. This case highlights the importance of considering this disorder in the differential diagnosis of oral mucosal ulcerations.
A doença de Riga-Fede caracteriza-se por ulceração reativa da mucosa oral associada ao traumatismo dentário repetitivo. Foi inicialmente descrita em crianças com déficit neurológico, sendo muito rara em adultos. O presente caso descreve o aparecimento de uma úlcera grande, semelhante ao carcinoma espinocelular, na língua de um adulto com hemiparesia. A lesão teve resolução completa após a recuperação neurológica. O caso salienta a importância de considerar esta doença no diagnóstico diferencial das úlceras da mucosa oral.