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1.
Clin Case Rep ; 11(9): e7585, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37736473

RESUMO

There are dermatoses that arise within healed zosteriform sites, such as granulomas annulare, acneiform eruptions, psoriasis, lichen planus, and giant cell lichenoid dermatitis "GCLD." Nonetheless, graft-versus-host disease should be considered and ruled out, especially in patients post-bone marrow transplant. Herein, we report a case of GCLD manifesting within healed zosteriform sites.

2.
Case Rep Dermatol ; 15(1): 17-21, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36686043

RESUMO

The febrile ulceronecrotic Mucha-Habermann disease is a rare and potentially lethal variant of pityriasis lichenoides et varioliformis acuta (PLEVA). It is characterized by a sudden onset of ulceronecrotic skin lesions associated with high fever and systemic symptoms. Herein, we report a 23-year-old male, not known to have any medical illnesses, presented with a month-long history of persistent fever of unknown origin associated with a sudden onset of progressive diffuse necrotic ulcers and widespread papulosquamous lesions. Pan CT showed enlarged lymph nodes in the cervix, chest, and abdomen. Unfortunately, a skin biopsy was done late, showing features consistent with PLEVA. Few days after admission, despite being on intravenous methylprednisolone, our patient rapidly deteriorated by showing severe acute respiratory symptoms and consequently died. In spite of the continuous addition of new case reports to the literature, no definite diagnostic criteria have been established, leading to late or missed cases, and an optimum treatment is still waiting.

3.
Front Genet ; 13: 994509, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36061207

RESUMO

Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since birth. Methods: The present study describes a consanguineous Saudi family segregating HYPTSV in an autosomal recessive fashion. A single proband (II-1) exhibited features such as diffused non-scarring alopecia on the scalp, intraepidermal blister, post-inflammatory hyperpigmented macules, and follicular hyperkeratosis. DNA of the index was subjected to whole-genome sequencing (WGS). Furthermore, 3D protein modeling was performed for the mutated and normal protein. Results: WGS revealed a novel bi-allelic missense variant (c.154G>C; p. Val52Leu) in the DSC3 gene, which segregated perfectly using Sanger sequencing. In addition, 3D protein modeling revealed a substantial change in the mutated DSC3 protein as compared to the normal DSC3 protein. Conclusion: This is the 3rd novel variant reported in the DSC3 gene associated with the HYPTSV phenotype. This report further strengthens the evidence that bi-allelic variants in the DSC3 cause severe HYPTSV in humans.

4.
Cureus ; 14(2): e22414, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35371700

RESUMO

COVID-19 is inflicted by SARS-CoV-2 and resulted in a global health crisis that necessitated the urgency of vaccine development to prevent its spreading among the public. Pfizer-BioNTech COVID-19 is one of the emergency use authorized (EUA) vaccines. This vaccine is efficacious against the SARS-CoV-2 virus; nonetheless, recipients have frequently reported side effects. Recipients of this vaccine experienced miscellaneous side effects like fatigue and headache. However, cutaneous eruptions of varying degrees of severity and involvements have been manifesting post-vaccination. Dermatological eruptions following vaccination against COVID-19 disease are poorly recognized. Dermatological manifestations triggered post-vaccination differ in the clinical context and patient's demographic features. The only constant factor is various clinical and histopathological relations to establish the diagnosis of cutaneous eruption post-vaccination. Herein, we report a case of an 18-year-old male with T-cell acute lymphocytic lymphoma (ALL) in remission since August 2018 and other comorbidities. After the administration of the first dose of the Pfizer-BioNTech COVID-19 vaccine, the patient developed pruritic eczematous eruption presenting as grouped erythematous-violaceous papulovesicular lesions with fine scales over his upper and lower extremities. These eruptions started two days after the administration of the vaccine. This eruption became generalized 21 days after receiving the second dose of the Pfizer-BioNTech COVID-19 vaccine. Clinical suspicion of the drug-induced vesicular eruption was suspected; thus, a biopsy was obtained and showed erosions and mixed inflammatory cell infiltrate. From a clinical and histopathological correlation, vesicular eruption following vaccination with Pfizer-BioNTech COVID-19 was confirmed. Nevertheless, other diagnoses cannot be ruled out, but from the clinical-histopathological association, the vaccine-inflicted eruption is the likely culprit. Reports are crucial to understanding the nature of such dermatological manifestation after emerging diseases and counteractions like vaccinations. The dermatological manifestations are vaguely recognized; thus, by reporting on the cases similar to the case in this report, more data will be available to understand the nature and underlying cause of such eruptions.

5.
Cureus ; 14(3): e22923, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35281578

RESUMO

Leptomeningeal carcinomatosis (LC) is a rare complication of primary malignancy that spreads to leptomeninges and cerebrospinal fluid (CSF). Due to its rarity, it is often diagnosed as a late complication of an advanced tumor. This report presents a case study of a 72-year-old nonsmoking female with multiple comorbidities with two-week rapidly progressive cognitive decline and extrapyramidal symptoms (EPS). She presented with speech difficulties, tension headaches, and episodes of inattention. On examination, she had a masked face, mild bradykinesia, mild rigidity more apparent in the limbs than axially, and slight hyperreflexia in the lower limbs with a normal plantar reflex (down-going). Magnetic resonance imaging (MRI) of the brain with gadolinium showed diffuse leptomeningeal dissemination. CT of the right lower lobe showed lobe apical segment mass lesion with air bronchogram extension to the hilum, which raised the suspicion that the patient had lung cancer. The microscopic analysis of cerebrospinal fluid (CSF) cytology showed poorly differentiated malignant cells favoring adenocarcinoma. Based on these investigations, leptomeningeal dissemination on the MRI led to a wide differential diagnosis; however, given the findings in the CT scan and CSF, the patient was diagnosed with leptomeningeal carcinomatosis secondary to metastatic lung cancer. Although LC is a rare terminal complication that presents with a wide range of symptoms, typically including headache, altered mental status, diplopia, back pain, cerebral signs, and leg weakness, our patient presented with an uncommon presentation, which was EPS. Therefore, this case report highlights the importance of early detection of LC in any patient presenting with unspecific neurological manifestations.

6.
Cureus ; 13(12): e20092, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34877230

RESUMO

Background Preterm infants are more susceptible to death, short-term complications, and long-term complications such as neurodevelopmental impairments. However, definitive assessment tools are not available in a resource-limited setting. Hence a screening tool is needed the Arabic-speaking population. Method Infants born at a gestational age of <32 weeks or a very low birth weight (VLBW) of less than 1500 g were recruited into a cross-sectional study. We identified infants (n = 61) admitted to the neonatal ICU at King Abdulaziz Medical City and reached 18 up to 24 months of corrected gestational age (CGA). The developmental assessment was done at 18, 20, 22, and 24 CGAs using the Ages and Stages Questionnaire third edition - Arabic version (ASQ3-A). The primary outcomes are early detection rate of neurodevelopmental delay (NDD), defined as a delay in one or more of the following: communication, gross motor, fine motor, problem-solving, and personal-social skills as per ASQ3-A. Results Sixty-one out of 92 eligible infants (36 excluded) completed the sufficient assessment. Twenty-six infants (42.6%) had at least one NDD in one of the following domains: communication skills: (11.5%), gross motor: (11.5%), fine motor: (19.7%), problem-solving skills: twelve infants (19.7%), and personal-social skills: twenty infants (23%). Perinatal events and periventricular leukomalacia (PVL) were significant independent predictors for the NDD. Conclusion This single-center study in Saudi Arabia screened preterm, VLBW infants based on ASQ3-A, twenty infants (42.6%) had an abnormal NDD at a corrected age of 18-24 months. Perinatal events and PVL were independent predictors of NDD. We recommend that all preterm VLBW infants in Saudi Arabia be evaluated by a neurodevelopmental screening tool, ASQ3-A, especially in resource-limited settings to start early intervention. Also, more extensive multicenter studies are to be carried out with definitive diagnostic tools to have a national benchmark for the long-term neurodevelopmental impairment.

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