ABSTRACT
INTRODUCTION: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene, characterized by profuse sweating when the ambient temperature is below 22°C and morphological alterations. CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. CASE REPORT: A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations. A genetic study was requested, detecting a c.713dupC mutation in homozygosity in the CRLF1 gene. CONCLUSIONS: We report the case of a male with clinical and genetic diagnosis of CISS1 who in childhood presented clinical characteristics of CS. The mutation detected in CRLF1 has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder.
Subject(s)
Abnormalities, Multiple/genetics , DNA/metabolism , Fever/genetics , Hand Deformities, Congenital/genetics , Hyperhidrosis/genetics , Mutation , Receptors, Cytokine/genetics , Trismus/congenital , Abnormalities, Multiple/metabolism , Abnormalities, Multiple/physiopathology , Adult , DNA Mutational Analysis , Death, Sudden , Facies , Fever/metabolism , Hand Deformities, Congenital/metabolism , Homozygote , Humans , Hyperhidrosis/metabolism , Hyperhidrosis/physiopathology , Male , Muscle Contraction/genetics , Receptors, Cytokine/metabolism , Sweating , Trismus/genetics , Trismus/metabolismABSTRACT
La hiperhidrosis focal primaria (HFP) es una patología de origen idiopático que afecta a un 2,8% de la población y que origina un fuerte impacto en la vida social, laboral y personal de los individuos que la padecen. Cuando sospechamos que un paciente puede presentar una HFP debemos realizar una anamnesis y exploración física minuciosas para descartar causas secundarias de hiperhidrosis. Posteriormente delimitaremos el área afectada mediante el test de Minor y podemos valorar la afectación que produce la enfermedad en la calidad de vida del paciente a través de distintos test. Existen múltiples tratamiento eficaces para la HFP: tratamientos tópicos, iontoforesis, infiltración de toxina botulínica, microondas, tratamientos sisté-micos y tratamientos quirúrgicos. Cada uno de estos tratamientos tiene características distintas, el conocimiento de estas características nos permitirá pautar a cada paciente el tratamiento más indicado en función de la severidad, localización y repercusión psicológica de la HFP y así obtener un resultado satisfactorio tanto para el paciente como para el médico (AU)
Primary focal hyperhidrosis (PFH) is an idiopathic pathology that affects 2.8% of the population and causes strong impact on social life, and daily activities of patients with the disease. When you suspect that a patient may suffer primary focal hyperhidrosis must perform a carefully history and physicalexamination to exclude secondary causes of hyperhidrosis. Afterwards the affected area is delimited by the Minor test and we can evaluate the effects of the disease in the patients quality of life through a variety of test. There are many effective treatments for PFH: topical treatments, iontophoresis, botulinum toxin injection, microwave, systemic treatments and surgical treatments. Each of these treatments has different characteristics, knowledge of these features will allow us to indicate to each patient the best treatment based on the severity, location and psychological impact of PFH and get a satisfactory outcome for both the patient and the physician (AU)
Subject(s)
Humans , Hyperhidrosis/therapy , Iontophoresis/methods , Botulinum Toxins/therapeutic use , Microwaves/therapeutic use , Practice Patterns, Physicians'Subject(s)
Humans , Male , Aged , Pruritus/etiology , Hodgkin Disease/diagnosis , Cytokines , Abdominal Neoplasms/diagnosisABSTRACT
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Subject(s)
Humans , Female , Adult , Biliopancreatic Diversion/adverse effects , Vitamin A Deficiency/complications , Obesity, Morbid/surgery , Arthritis/complications , Skin Diseases/complicationsABSTRACT
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Subject(s)
Humans , Female , Middle Aged , Neoplasm Metastasis/physiopathology , Neoplasm Metastasis , Pancreatic Neoplasms/complications , Pancreatic Neoplasms/diagnosis , Scalp/pathology , Immunohistochemistry/methods , Carcinoma/complications , Carcinoma , Biopsy/methods , BiopsySubject(s)
Adenocarcinoma/secondary , Head and Neck Neoplasms/secondary , Pancreatic Neoplasms/diagnosis , Scalp/pathology , Skin Neoplasms/secondary , Adenocarcinoma/diagnosis , Bone Neoplasms/secondary , Fatal Outcome , Female , Humans , Kidney Neoplasms/secondary , Liver Neoplasms/secondary , Middle Aged , Pancreatic Neoplasms/pathologySubject(s)
Membrane Proteins/genetics , Mutation/genetics , Neoplasm Proteins/genetics , Blister/diagnosis , Blister/ethnology , Blister/genetics , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/ethnology , Epidermolysis Bullosa/genetics , Exons/genetics , Female , Humans , Male , Middle Aged , Pedigree , Periodontal Diseases/diagnosis , Periodontal Diseases/ethnology , Periodontal Diseases/genetics , Photosensitivity Disorders/diagnosis , Photosensitivity Disorders/ethnology , Photosensitivity Disorders/genetics , SpainABSTRACT
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Subject(s)
Humans , Male , Female , Adult , Pemphigoid, Bullous/complications , Pemphigoid, Bullous/drug therapy , Steroids/therapeutic use , Socioeconomic Factors , Adrenal Cortex Hormones/therapeutic use , Administration, Topical , Residential Treatment/methods , Residential Treatment/trends , Home Nursing/statistics & numerical dataABSTRACT
La micosis fungoide folicular (MFF) es una variante de micosis fungoide (MF) caracterizada por la presencia de infiltrados foliculares, a menudo respetando la epidermis, y con afectación preferente de cabeza y cuello. Presentamos nuestra experiencia con 4 casos de MFF vistos en nuestro Servicio en los últimos años. Se trata de 4 pacientes (tres varones y una mujer) con edades comprendidas entre los 45 y 68 años. Clínicamente las lesiones se presentaron en forma de quistes, comedones, pápulas foliculares y placas con acentuación folicular. El estudio histopatológico mostró un infiltrado de distribución peri e intrafolicular con la epidermis parcial o totalmente respetada. Este infiltrado estaba formado principalmente por linfocitos atípicos. Se apreciaban también algunas formaciones quísticas. En tres casos se observaron depósitos de mucina y en uno siringotropismo. El análisis inmunohistoquímico fue positivo para los marcadores CD3, CD5 y CD4. Todos los pacientes recibieron diferentes tratamientos en función del estadio de su enfermedad. Uno de ellos falleció de shock séptico y el resto presentó respuestas parciales y recidivas frecuentes
Folliculotropic mycosis fungoides is a variant of mycosis fungoides characterized by the presence of folliculotropic infiltrates, often with sparing of the epidermis, and preferential involvement of the head and neck. We report our experience with four cases of folliculotropic mycosis fungoides followed in our department in the last years. There are four patients (three men and one woman) aged 45 to 68 years. Clinically the lesions presented as cysts, comedones, follicular papules and plaques with follicular plugging. The histopathological study showed a peri and intrafollicular infiltrate with partial or total sparing of the epidermis. This infiltrate was mainly composed of atypical lymphocytes. Some cystic formations were also observed. Three cases showed mucin deposits and one showed syringotropism. The immunohistochemical analysis was positive for CD3, CD5 and CD4. All patients received different treatments based on the stage of their disease. One of them died of septic shock and the rest showed partial responses and frequent relapses
Subject(s)
Male , Female , Middle Aged , Aged , Humans , Mycosis Fungoides/diagnosis , Mycosis Fungoides/therapy , Folliculitis/diagnosis , Folliculitis/drug therapy , PUVA Therapy , Carmustine/therapeutic use , Antineoplastic Agents, Alkylating/therapeutic use , Immunohistochemistry , Biomarkers , RecurrenceABSTRACT
Folliculotropic mycosis fungoides is a variant of mycosis fungoides characterized by the presence of folliculotropic infiltrates, often with sparing of the epidermis, and preferential involvement of the head and neck. We report our experience with four cases of folliculotropic mycosis fungoides followed in our department in the last years. There are four patients (three men and one woman) aged 45 to 68 years. Clinically the lesions presented as cysts, comedones, follicular papules and plaques with follicular plugging. The histopathological study showed a peri and intrafollicular infiltrate with partial or total sparing of the epidermis. This infiltrate was mainly composed of atypical lymphocytes. Some cystic formations were also observed. Three cases showed mucin deposits and one showed syringotropism. The immunohistochemical analysis was positive for CD3, CD5 and CD4. All patients received different treatments based on the stage of their disease. One of them died of septic shock and the rest showed partial responses and frequent relapses.
Subject(s)
Mycosis Fungoides/pathology , Skin Neoplasms/pathology , Aged , Antigens, CD/analysis , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Combined Modality Therapy , Fatal Outcome , Female , Humans , Lymphocytes, Tumor-Infiltrating/pathology , Male , Middle Aged , Mucins/analysis , Mycosis Fungoides/chemistry , Mycosis Fungoides/diagnosis , Mycosis Fungoides/drug therapy , Mycosis Fungoides/radiotherapy , Neoplasm Proteins/analysis , Neoplasm Recurrence, Local , PUVA Therapy , Shock, Septic/etiology , Skin Neoplasms/chemistry , Skin Neoplasms/diagnosis , Skin Neoplasms/drug therapy , Whole-Body IrradiationSubject(s)
Dermoscopy , Port-Wine Stain/diagnosis , Humans , Laser Therapy , Microscopy, Video , Port-Wine Stain/therapyABSTRACT
Clinical researchers are evaluating the utility of obtaining sequential images of pigmented lesions taken over time for purposes of comparison with the aim of detecting subtle changes suggestive of melanoma. Therefore, the image acquisition process is critical and will need to be strictly standardized before any firm conclusions can be drawn from analysis of sequential images. The influence of patient positioning on the accuracy of sequential image analysis has not been considered in most studies evaluating sequential images. In this experimental study, the influence of patient positioning on the size and shape of an inked circle placed on the skin was determined and measured. Inked circular marks (15 mm in diameter, area 176.71 mm2) were placed on the skin of the lumbar and suprascapular areas of 60 consecutive patients. The diameter and area of the 'circle' was measured with the patient in the prone position with head centred, prone position with head turned to the right, prone position with head turned left, and in the seated position. Statistical analysis was performed with Student's t-tests (paired data). We observed statistically significant differences in the shape, mean maximal diameter and area of the inked circular marks on both the suprascapular area and in the lumbar area after changes of patient positioning (P<0.001). To conclude, the position of the patient must be fixed and standardized during acquisition of sequential images, at least for lesions 15 mm in diameter or larger. Furthermore, it is our opinion that the methods used to control for patient positioning should be reported in the methodology section of studies that report on comparison of sequential images. Only then can we accurately compare sequential images and avoid 'false positive lesion enlargement' being categorized as a true change.
