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1.
Pediatr Dermatol ; 37(2): 375-376, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31876002

RESUMEN

Lichen planus pigmentosus is uncommon in childhood and its treatment is often challenging. We report a case of cutaneous lichen planus pigmentosus in a 10-year-old boy, without oral mucosal involvement, two months after an amalgam dental restoration. The diagnosis was based on the histopathological examination of a skin biopsy, the positive patch test to mercury, and the improvement after amalgam removal. Our case report suggests that metal allergy may play a role, and amalgam replacement may be followed by clinical improvement.


Asunto(s)
Amalgama Dental/efectos adversos , Hiperpigmentación/etiología , Hiperpigmentación/patología , Hipersensibilidad Tardía/complicaciones , Liquen Plano/etiología , Liquen Plano/patología , Niño , Humanos , Hipersensibilidad Tardía/diagnóstico , Masculino , Pruebas del Parche
2.
J Cosmet Laser Ther ; 21(1): 1-3, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-29400590

RESUMEN

Lichen amyloidosis is a primary localized cutaneous amyloidosis. Different types of treatment have been used without complete resolution. Herein, we report a case of patient suffering from lichen amyloidosis successfully treated with fractional ablative laser CO2. He was a 59-year-old man diagnosed lichen amyloidosis localized on the legs 10 years ago. He was treated with topical corticosteroids without any improvement. Then, we started treating the affected area with CO2 laser (limmer*) at a setting of 5-8 J/cm2 and 8 mm laser spot size. A considerable improvement was noticed after the first session. A total healing was reported after four sessions. To the best of our knowledge, only 11 reported cases of lichen amyloidosis have been successfully treated with laser CO2. However, our clinical finding seems to be one of the best reported results.


Asunto(s)
Amiloidosis Familiar/radioterapia , Láseres de Gas/uso terapéutico , Terapia por Luz de Baja Intensidad/métodos , Enfermedades Cutáneas Genéticas/radioterapia , Humanos , Masculino , Persona de Mediana Edad
4.
Hum Mutat ; 39(10): 1305-1313, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30011118

RESUMEN

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B, NIPAL4 (ICHTHYIN), ABCA12, CYP4F22, PNPLA1, CERS3, SDR9C7, and SULT2B1. Over a period of 22 years, we have studied a large patient cohort from 770 families with a clinical diagnosis of ARCI. Since the first report that mutations in the gene CYP4F22 are causative for ARCI in 2006, we have identified 54 families with pathogenic mutations in CYP4F22 including 23 previously unreported mutations. In this report, we provide an up-to-date overview of all published and novel CYP4F22 mutations and point out possible mutation hot spots. We discuss the molecular and clinical findings, the genotype-phenotype correlations and consequences on genetic testing.


Asunto(s)
Sistema Enzimático del Citocromo P-450/genética , Genes Recesivos , Estudios de Asociación Genética , Ictiosis/diagnóstico , Ictiosis/genética , Mutación , Alelos , Biología Computacional/métodos , Femenino , Pruebas Genéticas , Genotipo , Humanos , Masculino , Linaje , Fenotipo , Piel/patología , Piel/ultraestructura
14.
Int J Dermatol ; 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-39146347

RESUMEN

Facial neutrophilic dermatosis is a relatively recent and rare entity. Herein, we report an original case with a clinical appearance of crusty pyoderma gangrenosum and limited face involvement, classifying it as neutrophilic dermatosis (ND) of the face. The latter is an infrequent entity and forms part of the ND spectrum. The few reported cases in the literature are characterized by a restricted distribution on the face, as in our case. Nevertheless, this entity remains controversial: some consider it a variant of Sweet's syndrome; others see it as a truly independent entity. Matthews et al. reported an association between ND of the face, as in the case of our patient with a crusty appearance, and ulcerative colitis. Our observation and that of Matthews et al. underline the wide and varied potential for the clinical presentation of this entity.

15.
Skinmed ; 21(4): 280-281, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37771023

RESUMEN

A 61-year-old woman presented with a 3-year history of painless soft-tissue mass on the right sole. The patient reported gradual growth, with a rapid increase in size over the past few months, leading to difficulty in walking. She had no history of past trauma. Examination revealed a 4-cm ovoid mass located over the ball of the foot. It was firm in consistency, with well-defined margins, a smooth surface, and an overlying normal skin (Figure 1). An ultrasound image revealed an eccentric, hypoechoic, nonvascular subcutaneous lobular mass. A magnetic resonance imaging (MRI) of the foot revealed a well-defined mass arising from the flexor tendon sheath of the right foot. The lesion was heterogeneously hyperin-tense on T1- and T2-weighted images with an avid contrast enhancement. All of the surrounding soft tissues indicated normal signal intensity patterns. There was no associated bony destruction. Histopathologic examination after complete excision of the mass established a well-circumscribed lesion composed of osteoclast-like giant cells and mononuclear cells in a hyalinized stroma, consistent with a giant cell tumor of the tendon sheath (GCT-TS) (Figure 2). There was no recurrence during a 6-month follow-up period (Figure 3).


Asunto(s)
Tumor de Células Gigantes de las Vainas Tendinosas , Tumores de Células Gigantes , Femenino , Humanos , Persona de Mediana Edad , Tendones/diagnóstico por imagen , Tendones/patología , Tumores de Células Gigantes/diagnóstico , Tumores de Células Gigantes/cirugía , Tumores de Células Gigantes/patología , Tumor de Células Gigantes de las Vainas Tendinosas/diagnóstico , Tumor de Células Gigantes de las Vainas Tendinosas/cirugía , Tumor de Células Gigantes de las Vainas Tendinosas/patología , Imagen por Resonancia Magnética , Pie/patología
16.
Front Med (Lausanne) ; 10: 1196041, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37601782

RESUMEN

The Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) syndrome can be potentially life-threatening. The diagnosis is sometimes difficult since the clinical manifestations may be incomplete or non-specific. Insulinoma is a rare functioning neuroendocrine tumor (NET) of the pancreas. Medical therapy may be needed when surgery is contraindicated, delayed or refused. Diazoxide is widely used to control hypoglycemia in patients with insulinoma. We report a clinical case of an insulinoma in a 85-year-old patient treated with diazoxide with a fatal outcome due to a delayed diagnosis of a DRESS syndrome. This is the first case of DRESS syndrome reported after using diazoxide for insulinoma treatment in our knowledge.

17.
Clin Case Rep ; 10(5): e05833, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35592047

RESUMEN

Harlequin syndrome corresponds to unilateral dysfunction of the sympathetic system, characterized by flush and unilateral hyperhidrosis associated with hypo or anhidrosis and paleness of the opposite side. It is, usually, idiopathic. Rarely, it may be associated with compressive organic processes, iatrogenic causes, and general diseases. It is a real therapeutic challenge.

18.
Clin Case Rep ; 10(4): e05771, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35449776

RESUMEN

We report a new case of chronic recurrent annular neutrophilic dermatosis in a woman. Through our observation, we aim to make the clinician aware of this rare entity, in order to consider it among the diagnostic hypotheses of annular dermatosis, with centrifugal, recurrent, and chronic evolution.

19.
Clin Case Rep ; 10(4): e05709, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35425606

RESUMEN

Annular elastolytic giant cell granuloma (AEGCG) is a benign skin disorder, with, unknown cause. It appears as erythematous papules or annular plaques. Few challenging cases of AEGCG have been reported in the literature. We describe a rare clinical presentation of AEGCG mimicking cutaneous sarcoidosis.

20.
Clin Case Rep ; 10(4): e05702, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35414920

RESUMEN

Sweet syndrome is a rare inflammatory dermatosis that can be associated with various diseases, including leukemias. Physicians should be aware that a photodistributed clinical presentation of a pustular SS may reveal underlying malignancies, particularly hemopathies. If the hemopathy is known, recurrence lesions should be suspected of a relapse.

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