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1.
Pediatr Dermatol ; 37(2): 375-376, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31876002

RESUMO

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.


Assuntos
Amálgama Dentário/efeitos adversos , Hiperpigmentação/etiologia , Hiperpigmentação/patologia , Hipersensibilidade Tardia/complicações , Líquen Plano/etiologia , Líquen Plano/patologia , Criança , Humanos , Hipersensibilidade Tardia/diagnóstico , Masculino , Testes do Emplastro
2.
J Cosmet Laser Ther ; 21(1): 1-3, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29400590

RESUMO

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.


Assuntos
Amiloidose Familiar/radioterapia , Lasers de Gás/uso terapêutico , Terapia com Luz de Baixa Intensidade/métodos , Dermatopatias Genéticas/radioterapia , Humanos , Masculino , Pessoa de Meia-Idade
4.
Hum Mutat ; 39(10): 1305-1313, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30011118

RESUMO

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.


Assuntos
Sistema Enzimático do Citocromo P-450/genética , Genes Recessivos , Estudos de Associação Genética , Ictiose/diagnóstico , Ictiose/genética , Mutação , Alelos , Biologia Computacional/métodos , Feminino , Testes Genéticos , Genótipo , Humanos , Masculino , Linhagem , Fenótipo , Pele/patologia , Pele/ultraestrutura
14.
Int J Dermatol ; 2024 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-39146347

RESUMO

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.
Artigo em Inglês | MEDLINE | ID: mdl-37771023

RESUMO

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).


Assuntos
Tumor de Células Gigantes de Bainha Tendinosa , Tumores de Células Gigantes , Feminino , Humanos , Pessoa de Meia-Idade , Tendões/diagnóstico por imagem , Tendões/patologia , Tumores de Células Gigantes/diagnóstico , Tumores de Células Gigantes/cirurgia , Tumores de Células Gigantes/patologia , Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico , Tumor de Células Gigantes de Bainha Tendinosa/cirurgia , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Imageamento por Ressonância Magnética , Pé/patologia
16.
Front Med (Lausanne) ; 10: 1196041, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37601782

RESUMO

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.
Artigo em Inglês | MEDLINE | ID: mdl-35592047

RESUMO

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): e05709, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35425606

RESUMO

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.

19.
Clin Case Rep ; 10(4): e05771, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35449776

RESUMO

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.

20.
Clin Case Rep ; 10(7): e6099, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35903509

RESUMO

We report an atypical presentation of a common disease to highlight the importance of making a correct diagnosis of scabies surrepticius in front of any itchy dermatosis especially in elderly patients. The misdiagnosis of this disease results in extensive infestation, especially with the use of corticosteroids.

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