Is macular lymphocytic arteritis limited to the skin? Long-term follow-up of seven patients

Abstract Background: Macular lymphocytic arteritis most commonly presents as hyperpigmented macules on the lower limbs. The pathogenesis of this disease is still unclear and there is an ongoing debate regarding whether it represents a new form of cutaneous vasculitis or an indolent form of cutaneous polyarteritis nodosa. Objective: To describe clinical, histopathological, and laboratory findings of patients with the diagnosis of macular lymphocytic arteritis. Methods: A retrospective search was conducted by reviewing cases followed at the Vasculitis Clinic of the Dermatology Department, School of Medicine, University of São Paulo, between 2005 and 2017. Seven patients were included. Results: All cases were female, aged 9-46 years, and had hyperpigmented macules mainly on the legs. Three patients reported symptoms. Skin biopsies evidencing a predominantly lymphocytic infiltrate affecting arterioles at the dermal subcutaneous junction were found, as well as a typical luminal fibrin ring. None of the patients developed necrotic ulcers, neurological damage, or systemic manifestations. The follow-up ranged from 18 to 151 months, with a mean duration of 79 months. Study limitations: This study is subject to a number of limitations: small sample of patients, besides having a retrospective and uncontrolled study design. Conclusions: To the best of the authors' knowledge, this series presents the longest duration of follow-up reported to date. During this period, none of the patients showed resolution of the lesions despite treatment, nor did any progress to systemic vasculitis. Similarities between clinical and skin biopsy findings support the hypothesis that macular lymphocytic arteritis is a benign, incomplete, and less aggressive form of cutaneous polyarteritis nodosa.

Papilas Fungiformes Pigmentadas de la Lengua. Características Clínicas, Histológicas y Dermatoscópicas de una Serie de Casos Ecuatorianos / Pigmented Fungiform Papillae of the Tongue. Clinical, Histological and Dermatoscopic Characteristics A Serie of Ecuadorian Cases

RESUMEN: Las papilas fungiformes pigmentadas de la lengua, cuyas siglas son PFPT, del inglés Pigmented fungiform papillae of the tongue, es una condición asintomática, no progresiva que se presenta en personas de piel oscura, en las cuales las papilas fungiformes cambian de su color rosado natural, a una gama de café a negro. El objetivo de nuestro estudio es reportar y describir las caractetísticas clínicas, dermatoscópicas e histológicas de la PFPT por primera vez en una serie de pacientes ecuatorianos. Estudio prospectivo simple en el Centro de Especialidades Dermatológicas Garzón, período de dos años. El criterio de inclusión fue cambio de coloración a nivel lingual, se recolectaron datos demográficos, clínicos; fotografías, dermatoscopía, y biopsia, para tinción con hematoxilina-eosina y Fontana-Mason. Examinamos 8.640 pacientres, 15 (12 mujeres, 3 varones) fueron diagnosticados de PFPT. La edad promedio fue 31 años, todos fueron mestizos, con fototipo de piel predominante III y IV. El tiempo de evolución promedio en años fue 5,8. Ninguno tuvo antescedentes familiares o personales relacionados a la patología. La evaluación clínica demostró que el patrón de distribución de acuerdo a la clasificación de Holzwanger en la gran mayoría fue tipo II (13/15). En todos los casos la dermatoscopía y la histología fueron específicas demostrando hallazgos típicos y comprobatorios de PFPT.

ABSTRACT: The pigmented fungiform papillae of the tongue, whose acronyms are PFPT, of the English Pigmented fungiform papillae of the tongue, is an asymptomatic, nonprogressive condition that occurs in dark-skinned people, in which the fungiform papillae change their color natural pink, to a range of brown to black. The aim of our study is to report and describe the clinical, dermatoscopic and histological characteristics of the PFPT for the first time in a series of Ecuadorian patients. A simple prospective study at the Garzón Dermatological Specialty Center, a two-year period. The inclusion criteria was lingual change of color, demographic, clinical data were collected; photographs, dermatoscopy, and biopsy, for staining with hematoxylin-eosin and FontanaMason. We examined 8,640 patients, 15 (12 women, 3 men) were diagnosed with PFTP. The range of age was 31 years, all were mestizos, with skin phototype predominant III and IV. The range of evolution time in years was 5.8. None had family or personal precedents related to the pathology. The clinical evaluation showed that the pattern of distribution according to the Holzwanger classification in the great majority was type II (13/15). In all cases, the dermatoscopy and histology were specific, demonstrating typical and evidential findings of PFPT.

Dois casos de hiperpigmentação cutânea induzido pela polimixina B / Two cases of skin hyperpigmentation induced by polymyxin B

INTRODUÇÃO: O processo de hiperpigmentação cutânea envolve mecanismos bioquímicos e imunológicos que estimulam a melanogênese e apesar da nefrotoxicidade consistir na reação adversa mais relevante da polimixina B, o antimicrobiano também está associado a esta alteração. RELATO DE CASO: Caso 1: paciente masculino diagnosticado com Linfoma de Hodgkin, que desenvolveu hiperpigmentação cutânea após iniciar tratamento com meropenem, anidulafungina e polimixina B devido a um quadro de choque séptico. Caso 2: paciente masculino admitido na UTI por rebaixamento do nível de consciência e suspeita de IAMCSST, diagnosticado com endocardite e pericardite, que também apresentou hiperpigmentação cutânea durante terapia com anfotericina B e polimixina B. CONCLUSÃO: Após criteriosa avaliação da ordem cronológica e medicamentos utilizados pelos pacientes, concluímos que a polimixina B desencadeou a hiperpigmentação em ambos. Por fim, baseado ao mecanismo desta reação e aos achados científicos, estudos clínicos que possam evidenciar um provável efeito farmacológico com o uso de antagonistas H2 são necessários.

INTRODUCTION: The skin hyperpigmentation process involves biochemical and immunological mechanisms that stimulate melanogenesis and although nephrotoxicity consists of the most relevant adverse reaction of polymyxin B, it is also associated with this changes. CASE REPORT: Case 1: male patient, diagnosed with Hodgkin's Lymphoma, who developed skin hyperpigmentation after starting treatment with meropenem, anidulafungin and polymyxin B due to a septic shock. Case 2: male patient, admitted to the ICU for decreased level of consciousness and suspected STEMI, diagnosed with endocarditis and pericarditis, who also presented skin hyperpigmentation during therapy with amphotericin B and polymyxin B. CONCLUSION: After careful evaluation of chronological order and drugs used by patients, we conclude that polymyxin B caused hyperpigmentation in both patients. Finally, based on the mechanism of this reaction and the scientific findings, clinical studies that may evidence a probable pharmacological effect with the use of H2 antagonists are required.

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity

Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. Objectives: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. Methods: Histopathological and immunohistochemical analysis of lesions from the proband was performed. The KITLG gene was screened for the presence of mutations. Results: A Chinese family containing 14 individuals with FPHH was described, and the proband was a 5-year-old girl showing diffuse hyper- and hypopigmented lesions on her extremities and trunk. Histopathological and immunohistochemical staining for S100 and HMB45 of skin biopsy specimens from the hyperpigmented areas showed a striking increase in melanin throughout the epidermis, especially in the basal cell layer, and staining of hypopigmented area specimens displayed lower levels of melanin in the epidermis. Mutation analysis of the KITLG gene was performed, but no mutation was found. Study limitations: The new pathogenic gene was not found. Conclusion: A family with FPHH was described. Analysis revealed that its members did not have any mutations of the KITLG gene, which provided evidence for genetic heterogeneity of this genodermatosis.

Dowling-Degos disease: a therapeutic challenge: report of a family with no response to laser treatments

La enfermedad de Dowling-Degos (DDD), conocida también como 'anomalía reticulada y pigmentada de las flexuras' es una rara genodermatosis autosómica dominante. Se caracteriza por la aparición de máculas hiperpigmentadas de configuración reticulada; afectando principalmente los grandes pliegues como las axilas e ingles. Pudiendo, además, comprometer otros pliegues como cervicales, antecubitales, submamarios e interglúteos. Otras características asociadas son las lesiones tipo comedones y los pits palmo-plantares. Presentamos el caso de una familia con enfermedad de Dowling-Degos sin respuesta al tratamiento con laser Nd:YAG y CO2. Se realiza una revisión de la literatura de los tratamientos disponibles.

Dowling-Degos disease (DDD), also known as "reticulate pigmented anomaly of the flexures", is a rare autosomal dominant genodermatosis. DDD is characterized by an acquired reticular skin hyperpigmentation which begins in the axillae and groin. It later involves other body folds, including neck, inner aspects of the arms and thighs, inframammary, and intergluteal folds. Associated features include comedolike lesions on the neck or back, pitted facial or perioral scars, and epidermoid cysts. Herein we present a family (proband, mother, grandmother) with DDD that were treated with Q-switched Nd:YAG laser and CO2 laser without response. Treatment options are discussed and the available literature is reviewed.

Hyperpigmentation as a peculiar presentation of mycosis fungoides

Abstract Hyperpigmented mycosis fungoides is an extremely rare subtype of mycosis fungoides. It presents as multiple pigmented macules and patches without poikilodermatous changes and characterized by a CD8+ phenotype on immunohistochemistry. This report describes a typical case of hyperpigmented mycosis fungoides in a 62-year-old woman, who presented with a 7-year history of multiple hyperpigmented macules and patches on the trunk and right leg with progression over this half a year. Histology and immunohistochemical staining of skin samples confirmed the diagnosis of mycosis fungoides. She received psoralen plus ultraviolet A (PUVA) therapy. After an 8-week treatment, the erythematous changes cleared without recurrence during a 6-month follow-up period. An intractable hyperpigmented patch should raise the clinical suspicion of mycosis fungoides with sequential skin biopsy.

Frontal fibrosing alopecia and lichen planus pigmentosus: diagnosis and therapeutic challenge

Abstract Frontal fibrosing alopecia is a variant of lichen planopilaris with marginal progressive hair loss on the scalp, eyebrows and axillae. We report a case of frontal fibrosing alopecia and lichen planus pigmentosus in a postmenopausal woman, that started with alopecia on the eyebrows and then on the frontoparietal region, with periocular and cervical hyperpigmentation of difficult management. The condition was controlled with systemic corticosteroid therapy and finasteride. Lichen planus pigmentosus is an uncommon variant of lichen planus frequently associated with frontal fibrosing alopecia in darker phototipes. It should be considered in patients affected by scarring alopecia with a pattern of lichen planopilaris and areas of skin hyperpigmentation revealing perifollicular hyperpigmentation refractory to multiple treatments. This case illustrates diagnostic and therapeutic challenge in face of scarring alopecia and perifollicular hyperpigmentation.

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.

Frontal fibrosing alopecia and extrafacial lichen planus pigmentosum in a caucasian woman

Abstract We present the case of a 72-year-old Caucasian woman with frontal fibrosing alopecia of one year's duration. Eighteen months later, she presented with sudden hyperpigmentation on the submental area, neck and upper chest. Histopathological examination was consistent with lichen planus pigmentosus. This is the report of a unique case of a FFA and extrafacial lichen planus pigmentosus.

Ashy dermatosis with involvement of mucous membranes

Abstract: Ashy dermatosis is a rare condition, of unknown aetiology, in which mucous membranes are typically spared. The authors report the case of a 57-year-old female with a history of asymptomatic gray-bluish macules located on the trunk and oral mucosa. There were no relief changes on examination. Skin biopsies from the oral mucosa and trunk were performed and both were compatible with ashy dermatosis. The patient started treatment with oral clofazimine but due to the absence of clinical improvement the drug was discontinued three months later. This case report illustrates an atypical case of ashy dermatosis owing to the involvement of mucous membranes, which is rarely described in the literature.

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Abstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.

Síndrome H: primer caso pediátrico reportado en América Latina / H syndrome: First reported paediatric case in Latin America

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.

Laptop computer induced erythema ab igne: a new presentation of an old disease

Abstract Erythema ab igne is a condition characterized by skin changes due to chronic exposure to moderate temperature. We describe a female patient with continuous use of a laptop computer on exposed legs for 6 months and consequent development of reticulated hyperpigmentation at the area. Histopathological examination revealed epidermal atrophy, collagen fragmentation, and vacuolar changes in the basal layer, among other signs. We consider this case to be a modern cause of erythema ab igne.

Coexistence of nail lichen planus and lichen planus pigmentosus

Abstract We describe a fifty-six-year old, Afro-descendent female patient showing dystrophy of her twenty nails and hyperchromic, asymptomatic macule on her face. Histopathological examination of the macule showed vacuolization of the basal layer, melanophages in the superficial dermis and lymphoplasmocytic inflammatory infiltrate. Nail biopsy revealed orthokeratotic hyperkeratosis and lichenoid inflammatory infiltrate. Lichen planus pigmentosus is an uncommon variety of lichen planus. It is characterized by typical hyperpigmented macules on the face and neck. Nail changes might be present in 10% of lichen planus cases, but no associations with lichen planus pigmentosus have been described. We report a case of lichen planus in twenty nails associated with lichen planus pigmentosus on the patient's face.

Chemical leukoderma induced by dimethyl sulfate

Abstract Chemical leukoderma occurs due to the toxic effect of a variety of chemical agents. Mechanisms include either destruction or inhibition of melanocytes. We report two male patients (36 and 51 years old) who presented with multiple hypopigmented macules and patches on the neck, wrist, and legs after exposure to dimethyl sulfate in a chemical industry. Physical examination revealed irregular depigmentation macules with sharp edges and clear hyperpigmentation around the lesions. History of repeated exposure to a chemical agent can help the clinical diagnosis of chemical leukoderma. This diagnosis is very important for prognosis and therapeutic management of the disease.