Capecitabine-induced oral mucosal hyperpigmentation associated with hand-foot syndrome - A literature review

Abstract Background Capecitabine (Xeloda®) is a cytotoxic, antimetabolite chemotherapeutic agent. Its most common adverse events are diarrhea, hand-foot syndrome (HFS), hyperbilirubinemia, hyperpigmentation, fatigue, abdominal pain, and other gastrointestinal effects. HFS or palmar-plantar erythrodysesthesia (PPE) is an adverse reaction resulting from therapy with chemotherapeutic agents, classified into three degrees. Hyperpigmentation, as an adverse effect of capecitabine, can occur in different locations and with different patterns. The skin, nails and oral mucosal membrane can be affected. Objective The objective of this study was to report and discuss oral hyperpigmentation associated with HFS caused by the use of capecitabine, which is still poorly described in the literature. Methodology A literature review was carried out using the online databases PubMed, Scielo, BVS, Lilacs, Medline, BBO and Google Scholar, associating the descriptors "Capecitabine", "Pigmentation Disorders", "Oral mucosa", "Cancer" and "Hand-Foot Syndrome", which were related and used to exemplify, discuss and report the exposed clinical case. Results This case report corroborates the literature regarding the incidence in females and black skin persons like this patient who was affected by HFS when undergoing antineoplastic therapy with capecitabine and presented hyperpigmentation of the hands, feet and oral mucosa. On the oral mucosa, the hyperpigmented spots were diffuse, showing a blackish color and irregular edges. Their pathophysiology remains unknown. Study limitations Few articles citing capecitabine-associated pigmentation. Conclusions It is hoped that this study may contribute to the identification and correct diagnosis of hyperpigmentation in the oral cavity, as well as call attention to the adverse effects related to capecitabine.

Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

Curry-Jones syndrome: the first case reported in China / 中华皮肤科杂志

A 3-year-6-month-old boy presented with multiple asymptomatic banded white macules at birth, which expanded in proportion to his body, and deformity of his right thumb with slight dyskinesia. The patient showed difficulty in communication and concentration compared with children of the same age. The family history was unremarkable. The child had clear consciousness, passable spirits, and poor language ability. Physical examination revealed a special face and slight macrodactyly of the right thumb joints, and the heart, lung, and abdominal examination was otherwise normal. Skin examination showed multiple banded or confluent irregular white macules of varying sizes and slightly elevated plaques distributed along the Blaschko′s lines on the right chest, the flexor aspect of the right upper limb, the median line of the lower abdomen, and the right lower limbs, and banded brown macules on the palmar side of the right hand and radial aspect of the right thumb. Histopathological findings of the while macule on the lower limb were consistent with basaloid follicular hamartoma. Cranial magnetic resonance imaging revealed agenesis of the corpus callosum. Whole-exome sequencing of the lesional tissue showed a mutation c.1234C>T (p.L412F) in the SMO gene, which was not found in his parents. A diagnosis of Curry-Jones syndrome was made based on the skin lesions, and pathological and genetic findings. The mutation c.1234C>T (p.L412F) in the SMO gene may contribute to the disease. The patient continued functional exercises to improve the mobility of his right thumb, and underwent a close follow-up.

Gene mutation analysis in a Chinese pedigree with autosomal dominant Waardenburg syndrome / 中华皮肤科杂志

Objective:To report a Chinese pedigree with autosomal dominant Waardenburg syndrome, and to identify causative gene mutations.Methods:Clinical data and peripheral blood samples were collected from the proband and her parents. Genomic DNA was extracted, gene mutations were detected through a next-generation skin-targeted sequencing panel, and Sanger sequencing was performed to verify causative mutations.Results:The proband clinically presented with irregular white patches on the abdomen and lower limbs, moderate to severe sensorineural deafness in the right ear, and iris heterochromia in both eyes. The proband′s mother presented with iris heterochromia in both eyes, epicanthus, early canities and thick eyebrows. In the family, both the proband and her mother were diagnosed with Waardenburg syndrome. A causative frameshift mutation c.976-977delinsT (p.Thr327Profs*54) was identified in both the proband and her mother, which caused the AG to TT base substitution at positions 976 - 977 in the coding region of exon 7 of the PAX3 gene, resulted in a frameshift from the amino acid position 327 to 54 in the PAX3 protein (threonine was substituted by proline at amino acid position 327). The proband′s father showed a normal phenotype, and his genetic test results were negative.Conclusion:The novel frameshift mutation c.976-977delinsT (p.Thr327Profs*54) in the PAX3 gene may contribute to the clinical phenotype of the patients with Waardenburg syndrome in the family.

Role of different melanocyte populations in the reconstitution of pigmented hair follicles / 中华皮肤科杂志

Objective:To observe whether hair follicle cells from mice of different species can integrate to generate new pigmented hair follicles, and to explore the role of different melanocyte populations in pigmented hair follicle reconstruction in mice.Methods:The epidermal cell population, hair follicle epithelial cell population and dermal cell population were isolated from the skin of fetal or neonatal C57BL/6J and BALB/C mice, and epidermal melanocytes were obtained by culture and purification of the epidermal cell population. The experiments were divided into 3 parts: (1) hair follicle reconstruction experiment in neonatal C57BL/6J mice, which included 2 groups: epidermal cells + hair follicle epithelial cells group and dermal cells group; (2) chimeric hair follicle reconstruction experiment, which included 4 groups: dermal cells of neonatal C57BL/6J mice group, dermal cells of neonatal BALB/C mice group, dermal cells of neonatal BALB/C mice + dermal cells of neonatal C57BL/6J mice group, and dermal cells of fetal BALB/C mice + dermal cells of fetal C57BL/6J mice group; (3) pigmented hair follicle reconstruction experiment, which included 3 groups: dermal cells of neonatal BALB/C mice + epidermal cells of neonatal C57BL/6J mice group, dermal cells of neonatal BALB/C mice + hair follicle epithelial cells of neonatal C57BL/6J mice group, and dermal cells of neonatal BALB/C mice + cultured C57BL/6J epidermal melanocytes group. Different cells were implanted into dorsal skin fold chambers of the nude mice, and there were 4 mice in each group. At weeks 4 and 8 after inoculation, hair follicle reconstruction was assessed by gross observation, histological examination and immunofluorescence assay.Results:Among the 8 BALB/C nude mice in the 2 groups in the hair follicle reconstruction experiment, 7 survived and 1 died of wound infections on week 4 after inoculation; at weeks 4 and 8 after inoculation, no hair growth was observed in the epidermal cells + hair follicle epithelial cells group (3 mice) , while normal hair grew out in the dermal cells group (4 mice) mixed with epithelial components. Among the 16 BALB/C nude mice in the 4 groups in the chimeric hair follicle reconstruction experiment, 14 survived and 2 died of wound infections on week 4 after inoculation; at weeks 4 and 8 after inoculation, brown-grey hair grew well in the dermal cells of neonatal BALB/C mice + dermal cells of neonatal C57BL/6J mice group (4 mice) , and dermal cells of fetal BALB/C mice + dermal cells of fetal C57BL/6J mice group (3 mice) . Among the 12 BALB/C nude mice in the 3 groups in the pigmented hair follicle reconstruction experiment, 10 survived and 2 died of wound infections on week 4 after inoculation; at weeks 4 and 8 after inoculation, only white hair grew out in the dermal cells of neonatal BALB/C mice + cultured C57BL/6J epidermal melanocytes group (3 mice) , and no hair follicle melanocytes were observed by immunofluorescence assay, while brown-grey hair grew well in the dermal cells of neonatal BALB/C mice + epidermal cells of neonatal C57BL/6J mice group (4 mice) , and dermal cells of neonatal BALB/C mice + hair follicle epithelial cells of neonatal C57BL/6J mice group (3 mice) .Conclusions:The interaction between mesenchymal cells and hair follicle epithelial cells is a necessary condition for hair follicle reconstruction. The hair follicle cells from different species of mice can integrate to generate new pigmented hair follicles. Both hair follicle melanocytes and epidermal melanocytes can participate in the formation of pigmented hair follicles, but differentiated melanocytes have no such ability.

Estudo piloto sobre a eficácia e segurança do uso da cisteamina 5% como terapia de contato por toda noite no tratamento do melasma facial / Efficacy and safety of the 5% cysteamine cream left in overnight for facial melasma: a pilot study

Não se aplica, trata-se de uma carta

Not applicable, this is a letter.

Mutation analysis of the ADAR gene in two cases of dyschromatosis symmetrica hereditaria and a survey of their families / 中华皮肤科杂志

Objective:To investigate two Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH) , and to analyze gene mutations in the pedigrees.Methods:Clinical data were collected from two probands with DSH and other family members in their pedigrees. Peripheral blood samples were obtained from the two probands, their parents and 100 unrelated healthy controls. Gene mutations were detected by using a skin-targeted sequencing panel, and then verified by Sanger sequencing.Results:Case 1, an 18-year-old male patient, presented with millet-sized hyperpigmented and hypopigmented macules scattered on the dorsum of both hands and feet at the age of 5 years, and his mother had similar manifestations. A novel heterozygous frameshift mutation c.1970dupT (p.F657fs) was identified in exon 5 of the ADAR gene in case 1 and his mother, but not found in his father. Case 2, an 8-year-old male patient, presented with mottled rice- to soybean-sized brown hyperpigmented macules and hypopigmented macules on the face and neck, lower back, buttocks, lower limbs, as well as hands and feet, and his father presented with similar manifestations. A known heterozygous frameshift mutation c.2433_2434delAG (p.T811fs) was identified in exon 7 of the ADAR gene in case 2 and his father, but not found in his mother. Neither of the two mutations was identified in the 100 unrelated healthy controls.Conclusion:In this study, a novel mutation c.1970dupT (p.F657fs) in the ADAR gene was identified in a patient with DSH.

Long-term follow-up of a case of choroidal neovascularization secondary to reticular pigmentary retinal dystrophy / Seguimento de longo-prazo de um caso de neovascularização de coroide secundária à distrofia reticular pigmentar da retina

ABSTRACT Reticular pigmentary retinal dystrophy, also known as Sjögren's reticular dystrophy, is a rare condition characterized by macular lesions with a reticular pattern, which are best seen on fluorescein angiogram. Choroidal neovascularization secondary to this type of dystrophy is even less common. This report describes a case of reticular pigmentary retinal dystrophy with vision loss due to neovascular membrane, which responded well to treatment with anti-vascular endothelial growth factor.

RESUMO A distrofia reticular pigmentar da retina, também conhecida como distrofia reticular de Sjögren, é uma doença rara, caracterizada por lesões maculares com um padrão reticular, que são mais bem visualizadas na angiografia com fluoresceína. A neovascularização de coroide secundária a este tipo de distrofia é ainda menos comum. Este relato descreve um caso de distrofia reticular pigmentar da retina, com perda de visão devido à membrana neovascular, que respondeu bem ao tratamento com fator de crescimento endotelial antivascular.

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

SUMMARY OBJECTIVE: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition to skin malignances. Aims: To analyze clinical and epidemiological data in oculocutaneous albinism patients and to determine the prevalence of malignant skin lesions, assessing possible risk factors for skin cancer. METHODS: Cross-sectional study evaluating epidemiological data, habits of sun exposure and sun protection, and clinical examination of albino patients followed in a reference dermatology outpatient clinic in Brasil. Our primary outcome was the occurrence of malignant skin lesions in biopsied tissues. RESULTS: Of 74 patients analyzed, 11 (15%) had one or more suspicious lesions and were biopsied, of which 8 (72.7%) patients presented with basal cell carcinomas, 7 (63.3%) presented with squamous cell carcinoma, and 1 (9%) presented with melanoma. Moreover, 32(43%) patients presented with actinic keratosis. Age, female gender, previous history of sunburn, history of malignant lesions and history of sun exposure without photoprotection were associated with the presence of malignant lesions. Limitations: Unicentric, non-aleatory sample. CONCLUSIONS: There was a high prevalence of malignant and pre-malignant lesions in this population. Some potentially modifiable risk factors were associated with the occurrence of malignant skin lesions.

A case of hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis caused by a mutation in the FAM111B gene / 中华皮肤科杂志

A 2-year- and 2-month-old girl developed recurrent eczema-like rashes 7 days after birth, followed by the occurrence of poikiloderma and hair loss. Cholestasis occurred at the age of 1 month and 10 days, which was improved but serum transaminase levels were elevated after 4 months. The patient usually presented with slight sweating, heat intolerance, and delayed gross motor development. Skin examination showed generalized mottled hypo- and hyper-pigmented patches, especially in the exposed areas, and sparse hair and eyebrows. Her parents had no similar clinical manifestations. Whole-exome sequencing showed a mutation c.1883G>A (p.Ser628Asn) in the FAM111B gene in the child, which was not found in her parents. According to the typical skin lesions, abnormal liver function and genetic testing results, this patient was diagnosed with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis, and the mutation c.1883G>A in the FAM111B gene may be the cause of the patient′s clinical manifestations. The patient received hepatoprotective therapy, sun screen intervention, rehabilitation training, etc. After 10-month follow-up, the patient still presented with skin lesions and elevated transaminases, but without other discomforts.

Uso tópico de clareadores associados a hidratantes nos cuidados imediatos após peelings para tratamento de melasma: um estudo-piloto / Topical use of a blend of bleaches associated with moisturizers in immediate post-peeling care for melasma treatment

Introdução: melasma é uma dermatose de difícil controle e de características recidivantes, com diversas abordagens terapêuticas clínicas e intervencionistas. Objetivo: avaliar a segurança e a eficácia de um creme clareador no período imediatamente após peelings superficiais seriados. Métodos: cinco mulheres portadoras de melasma utilizaram creme contendo clareadores, hidratantes e calmantes durante o período de tratamento com peelings superficiais seriados. Foram avaliadas em D0, D7, D30, D37, D60, D67 e D90 por meio de: fotografias, registro da opinião do médico e paciente, descrição de eventos adversos, necessidade de interrupção do uso do produto assim como preenchimento do MELASQol. Resultados: houve melhora na hidratação, qualidade da pele e no clareamento, com pouco desconforto e redução significativa dos escores do MELASQol, com comprovação estatística. Conclusões: a utilização de tópico com propriedades clareadoras e calmantes é uma alternativa efetiva e segura para evitar a interrupção do tratamento de melasma durante o período da realização de peelings superficiais seriados

Introduction: Melasma is a recurrent and challenging dermatosis despite several clinical and interventional therapeutic approaches. Objective: This study aims to assess the safety and efficacy of using a bleaching cream in the period immediately after serial surface peels. Methods: Five women with melasma used a cream containing bleaches, moisturizers, and tranquilizers during the treatment period with serial surface peels. We assessed them in D0, D7, D30, D37, D60, D67, and D90 through photographs, record of the physician's and patient's opinion, description of adverse events, need to interrupt using the product, and the MELASQol questionnaire. Results: We observed improved hydration, skin quality, and bleaching, with little discomfort and a significant reduction in MELASQol scores, with statistical evidence. Conclusions: The use of a topic cream with bleaching and tranquilizing properties is an effective and safe alternative to avoid interruption of melasma treatment during the period of serial surface peels

Hypomelanosis of Ito with Multiple Congenital Anomalies

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.

Turmeric: A condiment, cosmetic and cure

Turmeric (Curcuma longa L.) is an integral part of Asian culture and cuisine. It has been used in traditional medicine since centuries. A myriad of health benefits have been attributed to it. Curcumin, the most biologically active curcuminoid in turmeric, is being investigated in pre-clinical and clinical trials for its role in disease prevention and cure. It has antioxidant, anti-inflammatory, antineoplastic, anti-proliferative and antimicrobial effects. We review the chemistry of this plant, its cultural relevance in Indian skin care, and its uses in dermatology.

Acquired Brachial Cutaneous Dyschromatosis in a Middle Aged Male

Acquired brachial cutaneous dyschromatosis (ABCD) is an acquired disorder of pigmentary change that presents as chronic, asymptomatic, geographic-shaped, gray-brown patches, consisting of mixed hyper and hypopigmented macules on the dorsal aspect of the forearms. We report a case of a 40-year-old male who presented with asymptomatic, multiple brown-colored macules on the outer aspects of both arms. He had no history of hypertension and had never taken angiotensin converting enzyme inhibitors. He also denied chronic sun exposure history. Histologic examination demonstrated epidermal atrophy, increased basal layer pigmentation, and several telangiectatic vessels in the upper dermis. Solar elastosis was not remarkable. The patient's clinical and histopathologic features were consistent with a diagnosis of ABCD. Poikiloderma of Civatte, melasma, acquired bilateral telangiectatic macules and other pigmentary disorders should be considered in the differential diagnosis of ABCD. Herein, we report a case of ABCD in a middle-aged male without hypertension and medication.

Hipercromia pós-inflamatória associada à psoríase. Relato de caso / Post-inflammatory hyperchromia associated with psoriasis. Case report

A Hipercromia pós-inflamatória (HPI), desordem de pigmentação da pele decorrente da produção exagerada de melanina, apresenta-se sob a forma de manchas hipercrômicas e representa uma sequela importante da psoríase, uma dermatose inflamatória. Objetiva-se, neste artigo, um relato de caso, descrever a HPI surgida após um quadro de psoríase, em paciente do gênero masculino, 54 anos de idade, cor parda, marceneiro de profissão, sem histórico de tabagismo, obesidade ou doença de base, atendido em uma Unidade Estratégia Saúde da Família (ESF), no município de Vassouras, região Centro Sul do Estado do Rio de Janeiro. A psoríase é uma doença imunológica crônica, resultante da estimulação persistente de células T por imunógenos de origem epidérmica, envolvendo a imunidade inata e a adquirida. A conduta terapêutica da HPI incluiu a prescrição de corticosteróides, despigmentantes e fotoprotetores. O acompanhamento do paciente por psicoterapia do Núcleo de Apoio à Saúde da Família (NASF), da ESF e pelo dermatologista da média complexidade da Rede de Atenção à Saúde (RAS) representou um diferencial e revelou-se imprescindível para a integralidade do cuidado em saúde.(AU)

Post-inflammatory hyperchromia (IPH), a pigmentation disorder of the skin resulting from the exaggerated production of melanin, is manifested by hyperchromic patches and is an important consequence of psoriasis, an inflammatory dermatosis. The objective of this article is to describe a case of IPH that appeared after psoriasis in a patient attended at a Family Health Strategy Unit (FHU), in the city of Vassouras, in the central region of the State of Rio de Janeiro. Psoriasis is a chronic immune disease that results from the persistent stimulation of T cells by immunogens of epidermal origin, involving innate and acquired immunity. The therapeutic management of IPH consists in prescribing of corticosteroids, despigmentants and photoprotectors. The follow-up of the patient through Psychology of the Family Health Support Center, the FHU and the dermatologist of the medium complexity of the Health Care Network represented a differential and proved to be essential for the integrality of health care.(AU)

Schamberg's disease: case report with therapeutic success by using colchicine

Abstract: Pigmented purpuric dermatoses (PPD) include a spectrum of diseases with different clinical aspects, but with similar histopathological features. Specific clinical findings allow the division of PPD in variants. Schamberg's disease is the most common. Treatment is sometimes ineffective and recurrences are common. There are reports of patients who responded well to the use of colchicine. We report the case of a 32-year-old woman, previously healthy, with a history of onset of asymptomatic lesions in legs. She presented purpuric skin eruptions and brownish stains diffusely distributed in the lower limbs. Biopsy was compatible with PPD. We decided for the introduction of colchicine, with good clinical response. The patient has been followed on outpatient basis for ten months without recurrence.

Brain MRI Features in Newborn Infants with Ineontinentia Pigmenti / 中国医学影像学杂志

Purpose To explore brain MRI features in newborn infants with incontinentia pigmenti,and to enhance the understanding and diagnosis level of this disease.Materials and Methods A retrospective analysis on MRI data of 13 neonates with incontinentia pigmenti admitted to Hunan Children's Hospital from January 2009 to December 2016 and further confirmed by clinical,pathology and gene diagnosis were conducted.Such conventional MRI sequences as T1WI and T2WI as well as DWI and SWI sequences wereincorporated.Results Five out of 13 newborn infants with incontinentia pigmenti were abnormal in the MRI features.In the conventional sequence,slightly short T1 signals in bilateral frontal lobe and right parietal occipital cortex were identified in 3 cases,right basal ganglia hemorrhage in 1 case.Slightly short TI and long T2 signals in bilateral basal ganglia were observed in 1 case;1 case of subarachnoid hemorrhage and 1 ease of bilateral lateral ventriculomegaly were noticed as well.The lesion sites of 4 cases were observed high density signal in DWI findings,three of which were widely distributed in abnormal signals.Lobes deep in bilateral cerebral hemispheres and subcortical white matter,bilateral basal ganglia,thalamus,internal capsule,corpus callosum,brain stem and cerebellum were the most affected areas.DWI could detect lesion area earlier and more accurate thanconventional sequences.Conclusion Incontinentia pigmenti among newborn infants demonstrates a high incidence.MRI examination should be adopted the moment neurological symptoms occur.Incontinentia pigmenti is relatively distinct in DWI findings,and hence is helpful for early detection of lesions and evaluation of clinical prognosis.

Association of amyloidosis cutis dyschromica and familial Mediterranean fever

Abstract: Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules. Up to date, about 50 cases of amyloidosis cutis dyschromica have been reported and the majority are familial cases of Asian ethnicity. Various diseases, particularly autoimmune diseases such as systemic sclerosis and systemic lupus erythematosus, have been associated with amyloidosis cutis dyschromica. Herein, we report a case of amyloidosis cutis dyschromica accompanying familial Mediterranean fever with a delayed diagnosis of 40 years. To the best of our knowledge, this is the first report of the association of amyloidosis cutis dyschromica and familial mediterranean fever.

Posible asociación autoinmune entre síndrome de Laugier-Hunziker y síndrome de Sjögren: reporte de un caso y revisión de la literatura / Laugier-Hunziker syndrome in a patient with Sjögren’s syndrome: report of one case

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 Sjögren’s 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.

Bilateral acute depigmentation of the iris: a case report / Despigmentação aguda bilateral da íris: um relato de caso

ABSTRACT Bilateral acute depigmentation of the iris (BADI) is a new clinical entity of unknown etiology and is characterized by bilateral, symmetrical, and simultaneous depigmentation of the iris with focal or diffuse stromal atrophy; this condition generally has a good prognosis. We present a case of a 26-year-old woman who noted a spontaneous change in the iris color in both eyes in the last 2 months. The ophthalmological findings were atrophy of the iris stroma and pigmentation of the trabecular meshwork, without affecting the pigmented epithelium of the iris. Her intraocular pressure was normal and the visual acuity was 20/20 in both eyes.

RESUMO A despigmentação aguda bilateral da íris (DABI) é uma nova entidade clínica caracterizada pela despigmentação bilateral, simétrica e simultânea da íris, com atrofia focal ou difusa do seu estroma, geralmente com bom prognóstico. Apresentamos o caso de uma mulher de 26 anos de idade que procurou atendimento médico em nosso serviço com queixa de mudança espontânea na cor da íris de ambos os olhos nos últimos dois meses. Os achados oftalmológicos observados durante o exame clínico foram atrofia do estroma da íris e pigmentação da malha trabecular, sem afetar o epitélio pigmentado da íris. A pressão intraocular era normal e acuidade visual de 20/20 em ambos os olhos.