ABSTRACT
BACKGROUND: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities. OBJECTIVES: To characterize clinically nonsyndromic XLI, with a particular focus on extracutaneous manifestations. METHODS: This was a multicentre retrospective review of clinical findings from a case series of patients with a clinical and genetic diagnosis of XLI. RESULTS: We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus. All patients had dark scales of variable size on the extensor surfaces of the extremities. Lack of flexural involvement and pruritus were common but inconsistent findings, whereas palmoplantar hyperlinearity was absent in all but one patient. A history of orchiopexy was present in 10% and thus was more common than expected vs. the general population (3%). Neurological disorders including epilepsy (13%) and attention deficit hyperactivity disorder (ADHD; 30%) were over-represented in patients with XLI. CONCLUSIONS: This was a retrospective study with a limited number of patients. In the absence of confirmatory genetic testing and family history of the disease, dark-brown scale of the extensor surfaces and the absence of palmoplantar hyperlinearity appear to be the most reliable clinical findings supporting a diagnosis of XLI. Dermatologists should be aware of the high prevalence of ADHD and epilepsy in patients with nonsyndromic XLI.
Subject(s)
Attention Deficit Disorder with Hyperactivity/epidemiology , Epilepsy/epidemiology , Ichthyosis, X-Linked/complications , Adolescent , Adult , Aged , Attention Deficit Disorder with Hyperactivity/genetics , Child , Child, Preschool , Epilepsy/genetics , Gene Deletion , Genetic Testing , Humans , Ichthyosis, X-Linked/diagnosis , Ichthyosis, X-Linked/genetics , Ichthyosis, X-Linked/pathology , Infant , Infant, Newborn , Male , Medical History Taking , Middle Aged , Prevalence , Retrospective Studies , Skin/pathology , Spain , Steryl-Sulfatase/genetics , Young AdultABSTRACT
La dermatosis caracterizada por eosinofilia tisular que aparece en el contexto de un trastorno hematológico se conoce con el nombre de dermatosis eosinofílica asociada a proceso hematológico, siendo el más frecuente de todos la leucemia linfática crónica. Se trata de una entidad poco frecuente que tiene un amplio espectro morfológico, desde pápulas, nódulos eritematosos o ampollas que simulan picaduras de artrópodo hasta la formación de verdaderas placas de tamaño variable y en las que la histología se caracteriza por la presencia de abundantes eosinófilos. Presentamos 4 nuevos casos diagnosticados en nuestro hospital en los últimos 7 años, 3 de ellos asociados a una leucemia linfática crónica y un cuarto caso asociado a una micosis fungoide. La importancia de conocer esta dermatosis radica en el hecho de que puede indicar una progresión de la enfermedad de base, y así fue en 3 de nuestros pacientes (AU)
Dermatosis characterized by tissue eosinophilia arising in the context of hematologic disease is known as eosinophilic dermatosis of hematologic malignancy. The most commonly associated malignancy is chronic lymphocytic leukemia. Eosinophilic dermatosis of hematologic malignancy is a rare condition with a wide variety of clinical presentations, ranging from papules, erythematous nodules, or blisters that simulate arthropod bites, to the formation of true plaques of differing sizes. Histology reveals the presence of abundant eosinophils. We present 4 new cases seen in Hospital Arnau de Vilanova, Valencia, during the past 7 years. Three of these cases were associated with chronic lymphocytic leukemia and 1 with mycosis fungoides. It is important to recognize this dermatosis as it can indicate progression of the underlying disease, as was the case in 3 of our patients (AU)
Subject(s)
Humans , Male , Female , Middle Aged , Aged , Aged, 80 and over , Eosinophilia/complications , Skin Diseases/complications , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Mycosis Fungoides/complications , Diagnosis, Differential , Adrenal Cortex Hormones/therapeutic use , Administration, Topical , Prednisone/therapeutic useABSTRACT
Dermatosis characterized by tissue eosinophilia arising in the context of hematologic disease is known as eosinophilic dermatosis of hematologic malignancy. The most commonly associated malignancy is chronic lymphocytic leukemia. Eosinophilic dermatosis of hematologic malignancy is a rare condition with a wide variety of clinical presentations, ranging from papules, erythematous nodules, or blisters that simulate arthropod bites, to the formation of true plaques of differing sizes. Histology reveals the presence of abundant eosinophils. We present 4 new cases seen in Hospital Arnau de Vilanova, Valencia, during the past 7 years. Three of these cases were associated with chronic lymphocytic leukemia and 1 with mycosis fungoides. It is important to recognize this dermatosis as it can indicate progression of the underlying disease, as was the case in 3 of our patients.
Subject(s)
Dermatitis/etiology , Eosinophilia/etiology , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Mycosis Fungoides/complications , Paraneoplastic Syndromes/etiology , Adrenal Cortex Hormones/therapeutic use , Aged , Aged, 80 and over , Antineoplastic Agents/adverse effects , Antineoplastic Agents/therapeutic use , Bexarotene , Dermatitis/diagnosis , Dermatitis/drug therapy , Diagnosis, Differential , Disease Progression , Eosinophilia/diagnosis , Eosinophilia/drug therapy , Female , Humans , Insect Bites and Stings/diagnosis , Male , Middle Aged , Mycosis Fungoides/drug therapy , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/drug therapy , Retrospective Studies , Tetrahydronaphthalenes/adverse effects , Tetrahydronaphthalenes/therapeutic useSubject(s)
Humans , Male , Middle Aged , Hyperpigmentation/complications , Hyperpigmentation/diagnosis , Mouth Mucosa/injuries , Mouth Mucosa/pathology , Biopsy , Dyskeratosis Congenita/complications , Dyskeratosis Congenita/diagnosis , Dyskeratosis Congenita/therapy , Hyperpigmentation/physiopathology , Hyperpigmentation/therapy , Neutropenia/complications , Thrombocytopenia/complications , Epidermis/pathology , Dyskeratosis Congenita/physiopathology , Thrombopoiesis , Diagnosis, DifferentialABSTRACT
La disqueratosis congénita (DC) es una genodermatosis multisistémica con un riesgo importante de padecer neoplasias malignas. Presentamos la evolución y complicaciones de un varón de 37 años que en la infancia fue diagnosticado de DC. El paciente desarrolló un tumor gástrico neuroendocrino y falleció. Revisamos las características clínicas de la enfermedad y destacamos la importancia de realizar un exhaustivo seguimiento de estos pacientes ante el riesgo potencial de presentar neoplasias (AU)
Dyskeratosis congenita (DC) is a genodermatosis with multisystem, life-threatening complications such as malignancies. We present the case of a37-year-old male diagnosed of DC in his infancy that developed a neuroendocrine gastric tumor and died. We also review the clinical features of the disease and emphasize the importance of performing a close surveillance of these patients due to the significant risk of malignancies (AU)
Subject(s)
Humans , Male , Adult , Dyskeratosis Congenita/complications , Neuroendocrine Tumors/complications , Stomach Neoplasms/complications , TelomeraseABSTRACT
En pacientes con SIDA y leishmaniasis visceral ha sido descrita la presencia de amastigotes de Leishmania en biopsias realizadas para estudiar diversas lesiones con las que no guardan aparente relación causal. Presentamos el caso de un varón de 40 años, VIH positivo severamente inmunodeprimido, en el que se observó incidentalmente la presencia del parásito al estudiar histológicamente un carcinoma epidermoide perianal. Dicho hallazgo permitió el diagnóstico y tratamiento de una leishmaniasis visceral insospechada. No hemos encontrado en la literatura ejemplos previos de esta asociación (AU)
Amastigotes of the genus Leishmania have been observed in biopsies of apparently unrelated lesions in patients with AIDS and visceral leishmaniasis. We describe the case of a 40-year-old man with human immunodeficiency virus infection and severe immunodepression in whom the presence of the parasite was detected as an incidental finding on histological study of a perianal squamous cell carcinoma. This finding led to the diagnosis and subsequent treatment of previously unsuspected visceral leishmaniasis. In a review of the literature we have found no previous examples of this association (AU)
Subject(s)
Humans , Male , Female , Leishmaniasis, Visceral/diagnosis , Leishmaniasis, Visceral/pathology , Acquired Immunodeficiency Syndrome/complications , Papillomavirus Infections/diagnosis , Biopsy, Fine-Needle , Human papillomavirus 16 , Leishmania/parasitologyABSTRACT
Amastigotes of the genus Leishmania have been observed in biopsies of apparently unrelated lesions in patients with AIDS and visceral leishmaniasis. We describe the case of a 40-year-old man with human immunodeficiency virus infection and severe immunodepression in whom the presence of the parasite was detected as an incidental finding on histological study of a perianal squamous cell carcinoma. This finding led to the diagnosis and subsequent treatment of previously unsuspected visceral leishmaniasis. In a review of the literature we have found no previous examples of this association.
