Acroqueratoelastoidosis de Costa / Acrokeratoelastoidosis of Costa

La acroqueratoelastoidosis de Costa es una genodermatosisde herencia autosónimica dominante con penetrancia incompleta. Es un trastorno de las fibras elásticas exclusivamente cutáneo y a nivel acral. Se caracteriza por la presencia de pápulas eritematosas, amarillentas o del color de la piel normal en la cara marginal de los dedos de las manos o de los pies, que se agrupan, forman placas con aspecto de empedrado y se extienden de forma simétrica al dorso, las palmas y las plantas. El hallazgo histológico patognomónico es la elastorrexis. Se presenta el caso de un niño de 7 años con una acroqueratoelastoidosis que comprometía las manos y los pies, asociada a prurito.

Acrokeratoelastoidosis of Costa is a genodermatosis of autosomal dominant inheritance with incomplete penetrance.It is a cutaneous disorder of the elastic fibers at the acral level.The clinical feature is the presence of erythematous, yellowish or normal skin-colored papules on the marginal aspect of the fingers and/or toes, which agminate to form cobblestone-like plaques and extend symmetrically to the dorsum and palms and soles. The pathognomonic histologic finding is elastorrhexis. We present a 7-year-old boy with acrokeratoelastoidosis involving hands and feet, associated with pruritus.

The deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling-Degos disease patients with hidradenitis suppurativa.

Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of NOTCH pathway has been linked to the development of HS in DDD context (DDD-HS). However, molecular alterations in DDD-HS, including altered gene expression of NOTCH and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. We report two cases of patients diagnosed with DDD-HS, one of those, under Adalimumab treatment. Our results have shown downregulation of NOTCH1/NCSTN pathway, distinct molecular profiles of inflammatory cytokines (IL23A and TNF), and a novel aberrant upregulation of genes involved in the cornified envelope (CE) formation (SPRR1B, SPRR2D, SPRR3, and IVL) in paired HS lesions of two DDD patients.

Actinic prurigo in a dermatological reference center in Colombia: 108 cases / Prurigo actínico en un centro dermatológico de referencia en Colombia: 108 casos.

Introduction: Actinic prurigo is a chronic photodermatosis. It affects the Latin American population more frequently, predominantly women, and involves the sun-exposed areas of the skin, conjunctiva, and lips. Objective: To update the information on the clinical-epidemiological characteristics and treatment of patients with actinic prurigo in Colombia. Materials and methods: We conducted a cross-sectional study including the medical records of patients with actinic prurigo treated in the Photodermatology Service of Hospital Universitario Centro Dermatológico Federico Lleras Acosta between 2011 and 2016. We described the demographic, clinical, histopathological, and treatment characteristics of the patients. Results: We included 108 patients, 77 (71.3%) were women and 31 (28.7%) men, mainly with phototypes III-IV (70%). The disease had begun during the first decade of life in 66.4% of the cases and 25% of the patients had a family history with the condition. The lesions predominated on the face (93.5%), forearms (79.6%), and back of the hands (70.4%). Ocular (87.9%) and lip (88.8%) involvement was also documented. A photo-provocation test with UVA was performed in 25% of the cases and skin biopsies in 19.4%. Physical and chemical photoprotection was indicated in all patients. Mild to moderate cases were treated with topical corticosteroids (91.7%) and calcineurin inhibitors (65.7%) while severe cases received thalidomide (33.3%) and pentoxifylline (14.8%). Conclusion: The characteristics of actinic prurigo patients in Colombia are similar to those reported in other Latin American countries: early onset of the disease, predominance in women, frequent involvement of conjunctiva and lips, and adequate response to topical and systemic treatment.

Introducción. El prurigo actínico es una fotodermatosis crónica. Afecta con mayor frecuencia a la población latinoamericana, predomina en mujeres y compromete la piel expuesta al sol, las conjuntivas y los labios. Objetivo. Actualizar la información sobre las características clínico-epidemiológicas y el tratamiento de pacientes con prurigo actínico en Colombia. Materiales y métodos. Se hizo un estudio de corte transversal que incluyó los registros clínicos de pacientes con prurigo actínico atendidos en el Servicio de Fotodermatología del Hospital Universitario Centro Dermatológico Federico Lleras Acosta entre el 2011 y el 2016, y se describieron sus características demográficas, clínicas e histopatológicas, así como su tratamiento. Resultados. Se incluyeron 108 pacientes, el 71,3 % de ellos mujeres y el 28,7% hombres, con predominio de los fototipos III-IV (70 %). La enfermedad se había iniciado durante la primera década de vida en el 66,4% de los casos y el 25 % de los pacientes tenía antecedentes familiares de la enfermedad. Las lesiones predominaban en el rostro (93,5 %), los antebrazos (79,6 %) y el dorso de las manos (70,4 %). También, se documentó compromiso ocular (87,9 %) y de los labios (88,8 %). Se hizo la prueba de fotoprovocación con radiación ultravioleta A en el 25 % de los casos y biopsia cutánea en el 19,4 %. Todos los pacientes se trataron con protección solar química y física. En los casos leves a moderados, se formularon corticoides tópicos (91,7 %) e inhibidores de la calcineurina (65,7 %), y en los graves, talidomida (33,3 %) y pentoxifilina (14,8 %). Conclusión. Las características de los pacientes colombianos con prurigo actínico son similares a las reportadas en otros países latinoamericanos: inicio temprano de la enfermedad, predominio en mujeres, compromiso frecuente de conjuntivas y labios, y adecuada respuesta al tratamiento tópico y sistémico.

Osteonevus of Nanta: a case report in a combined melanocytic nevus

Abstract Secondary osteoma cutis is a phenomenon that may occur in several conditions. When it occurs in a melanocytic nevus it is named osteonevus of Nanta, an event considered uncommon and characterized by the presence of bone formation adjacent or interposed with melanocytic cells. There are reports of its occurrence in various melanocytic lesions, being more frequently associated with intradermal nevus. We report a case of osteonevus of Nanta in combined nevus, possibly the first description of this association.

Osteonevus of Nanta: a case report in a combined melanocytic nevus.

Secondary osteoma cutis is a phenomenon that may occur in several conditions. When it occurs in a melanocytic nevus it is named osteonevus of Nanta, an event considered uncommon and characterized by the presence of bone formation adjacent or interposed with melanocytic cells. There are reports of its occurrence in various melanocytic lesions, being more frequently associated with intradermal nevus. We report a case of osteonevus of Nanta in combined nevus, possibly the first description of this association.

Bilateral osteoma cutis in a Peach-Faced Lovebird (Agapornis roseicollis).

An osteoma is an infrequent tumor documented in avian species. An adult female Peach-Faced Lovebird (Agapornis roseicollis) with a history of previous trauma was examined due to the presence of bilateral hard and yellowish-white masses in the radio-cubital humerus junction. Histopathological dermal examination revealed a non-neoplastic process of mesenchymal origin, characterized by the formation of well-differentiated trabecular bone, multiple areas of medullary bone and loose connective tissue and coagulation of the necrosis foci. Based on the histological findings and the medical history, the masses were diagnosed as bilateral secondary osteoma cutis. To our knowledge, this is the first report of this pathology with an acute course in this exotic pet bird. The previous trauma could be the initiating cause.

Epidermal Langerhans cells resistance to solar-simulated radiation in actinic prurigo patients with low minimal erythema dose.

BACKGROUND: Actinic prurigo is a chronic photodermatosis of unclear pathogenesis. Epidermal Langerhans cell resistance to migration after ultraviolet radiation exposure has been proposed as a possible mechanism, as occurs in polymorphic light eruption patients. The purpose of this study was to evaluate the effect of solar-simulated radiation (SSR) on epidermal Langerhans cells in the uninvolved skin of actinic prurigo patients. PATIENTS AND METHODS: Fifteen patients with actinic prurigo participated in the study. A biopsy from the uninvolved and unirradiated skin of the left buttock was performed, and another from the uninvolved skin of the right buttock, 72 hours after exposure to two MEDs of SSR. Immunohistochemistry staining was used to identify Langerhans cells (CD1a) in all samples. RESULTS: In actinic prurigo patients with normal MED, there was a significant decrease in the number of epidermal Langerhans cells on the buttock skin exposed to two MED of SSR compared with the unirradiated buttock skin (P = .02 and .035 respectively). On the contrary, in patients with low MED there were no significant differences in the number of epidermal Langerhans cells between irradiated and unirradiated skin (P = .39). CONCLUSION: Epidermal Langerhans cells migration after ultraviolet radiation exposure is decreased in actinic prurigo patients with low MED as has been reported in PLE patients, especially, those with low MED or positive UVB provocation tests. Langerhans cells resistance could be part of a common pathogenic mechanism in these two photodermatoses.

Trichoscopy findings in dissecting cellulitis.

Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease.

Trichoscopy findings in dissecting cellulitis

Abstract Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease.

Cutaneous Nodular Amyloidosis: A Disfiguring Aspect of the Face.

Primary localized cutaneous nodular amyloidosis is a rare plasma cell dyscrasia in which an amorphous material consisting of light chain amyloid is produced and deposited in the dermis, with varied clinical presentation. We describe the case with unusual and tumor lush clinical presentation in the face with no progression to systemic disease and no evidence of extracutaneous commitment.

Treatment of ligneous conjunctivitis with heterologous serum.

Ligneous conjunctivitis is a rare form of chronic and recurrent bilateral conjunctivitis, in which thick membranes develop on the tarsal conjunctiva and on other mucosae. We report the case of a 55-year old female patient with bilateral ligneous conjunctivitis who was successfully treated with 50% heterologous serum. There was no recurrence or side effects after one-year follow-up. We suggest the use of 50% heterologous serum should be further studied to better determine its efficacy as a treatment option for ligneous conjunctivitis.

Cutaneous inflammation as a marker of malignant transformation in a patient with linear unilateral basaloid follicular hamartoma.

Basaloid follicular hamartoma is a rare, benign and superficial malformation of hair follicles, characterized histologically by epithelial proliferation of basaloid cells with radial disposition. It can be mistaken for basal cell carcinoma. Even though these hamartomas are considered benign lesions, malignant transformation has rarely been reported. We report the case of a 45-year-old healthy woman, with linear, unilateral basaloid follicular hamartoma which developed inflamed papules histologically suggestive of basal cell carcinoma. We believe that identification of local inflammation could be a clinical clue to guide us towards a malignant transformation of basaloid follicular hamartoma.

Treatment of ligneous conjunctivitis with heterologous serum / Tratamento de conjuntivite lenhosa com soro heterólogo

ABSTRACT Ligneous conjunctivitis is a rare form of chronic and recurrent bilateral conjunctivitis, in which thick membranes develop on the tarsal conjunctiva and on other mucosae. We report the case of a 55-year old female patient with bilateral ligneous conjunctivitis who was successfully treated with 50% heterologous serum. There was no recurrence or side effects after one-year follow-up. We suggest the use of 50% heterologous serum should be further studied to better determine its efficacy as a treatment option for ligneous conjunctivitis.

RESUMO A conjuntivite lenhosa é uma forma rara de conjuntivite bilateral crônica e recorrente, na qual há formação de membranas espessas na conjuntiva tarsal e em outras mucosas. Relatamos o caso de uma paciente de 55 anos com conjuntivite lenhosa bilateral, que obteve sucesso no tratamento com soro heterólogo em concentração de 50%. Não houve recorrência após um ano de seguimento e nem efeitos colaterais ao tratamento. Dessa forma, o uso de soro heterólogo a 50% poderia ser mais estudado para melhor avaliação de sua eficácia como opção de tratamento para a conjuntivite lenhosa.

Clinical, histopathological, and genetic aspects in one case of ligneous conjunctivitis.

Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred cases have been reported in the literature. Here we report a case of a 9-year-old boy with diagnosis of ligneous conjunctivitis. Histopathological examination in hematoxylin-eosin (HE) staining and sequencing of PLG gene were performed to confirm diagnosis. Histopathological findings confirmed the diagnosis of ligneous conjunctivitis. The patient is compound heterozygous for c.1026T>G (p.Val342Gly) and c.2384G>C (p.Arg795Pro) mutations in PLG gene. Both mutations have not been described previously, and the bioinformatic analysis strongly suggests that are causative of the disease. To the best of our knowledge, this is the first case report of a Chilean patient with ligneous conjunctivitis.

Expression of E-cadherin, syndecan 1, Ki-67, and maintenance minichromosome 3 in tissue lesions of actinic prurigo obtained by incisional biopsy.

Actinic prurigo (AP) is an idiopathic photodermatosis; the initial manifestations usually occur during the first decades of life but can appear at any age. Cases are usually diagnosed late once the lesions have exacerbated; due to the extensive involvement of the vermilion border and the etiology, it has been confused with and related to a potentially malignant process. Syndecan-1 and E-cadherin were positive in the epidermis, with moderate-to-intense staining in 100% of samples. Ki67 and MCM3 were expressed in the lower third of the epidermis and showed greater immunolabeling in samples that contained lymphoid follicles (Ki 67: epidermis [17.7% ± 6.79%] and dermis [7.73% ± 6.69%]; MCM3: epidermis [22.92% ± 10.12%] and dermis [6.13% ± 6.27%]). In conclusión AP is a disease in which there is no evidence that the lesions are potentially cancerous. AP cheilitis should not be confused with actinic cheilitis because they are separate entities.