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1.
Am J Med Genet A ; 194(3): e63446, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37915296

RESUMEN

Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gene that can coexist or occur independently from one another. We report two cases of PHOAR2 in Mexico with concomitant CEAS and conducted a review of the literature of the reported cases of PHOAR2 and/or CEAS to analyze the relationship between their genotype and phenotype presentation. The patients from our Institution with classical PHOAR2 phenotype and CEAS, harbored SLCO2A1 c.547G > A and c.1768del variants. We reviewed 232 cases, of which 86.6% were of Asian origin, and identified 109 different variants in SLCO2A1. Intron 7, exon 13, and exon 4 were predominantly affected. The two most common PVs were c.940 + 1G > A and c.1807C > T. We found a statistically significant association between SLCO2A1 variants located in intron 7, exons 12, and 13 and the development of CEAS. Missense variants were more frequent in isolated PHOAR2, while a greater proportion of protein-truncating variants (PTVs) were found in CEAS. Further investigation is imperative to elucidate the underlying pathophysiological mechanisms associated with CEAS, thereby facilitating the identification of effective therapeutic interventions.


Asunto(s)
Transportadores de Anión Orgánico , Osteoartropatía Hipertrófica Primaria , Humanos , Osteoartropatía Hipertrófica Primaria/diagnóstico , Osteoartropatía Hipertrófica Primaria/genética , Transportadores de Anión Orgánico/genética , Genotipo , Fenotipo , Mutación Missense
4.
Curr Fungal Infect Rep ; 17(1): 71-76, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36741270

RESUMEN

Purpose of Review: To review recent literature on Malassezia folliculitis and explore its association with COVID-19. Recent Findings: Reports of Malassezia folliculitis in the setting of COVID-19 are scarce. Shared characteristics between affected individuals include male sex, obesity, intensive care, and administration of systemic antibiotics and systemic steroids. Dexamethasone can potentially stimulate sebum production and therefore lead to Malassezia proliferation. The clinical picture of Malassezia folliculitis accompanying COVID-19 is similar to classic descriptions but tends to spare the face and predominates in occlusion sites. Summary: Malassezia folliculitis is under-recognized. Fever, sweating, occlusion, immobility, antibiotics, and dexamethasone contribute to COVID-19 patients developing Malassezia folliculitis. Antifungal therapy, together with correcting predisposing factors, is the mainstay of management. Future research should explore the relationship between systemic steroids and other acneiform reactions.

5.
Cureus ; 14(10): e30382, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36407187

RESUMEN

Trigeminal trophic syndrome (TTS) is an unusual complication that occurs secondary to trigeminal nerve injury. The insult to the nerve can lead to anesthesia, hypoesthesia, and paresthesias producing sensations such as burning or itching. The combination of both leads to repeated self-inflicted skin trauma in an attempt to alleviate these sensations, eventually leading to ulceration of the skin. We report a case of a 71-year-old male patient with a scalp ulcer who had an episode of herpes zoster ophthalmicus four months prior to presentation.

6.
Cureus ; 14(3): e23008, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35464589

RESUMEN

We report the case of a 25-year-old woman who presented to the outpatient dermatology clinic with a history of systemic lupus erythematosus, systemic sclerosis, and primary hypothyroidism. She complained of a one-year history of cutaneous lesions that were pruriginous and evolved into crusts and weeks later resolved with varioliform scarring. Clinicopathological correlation established a diagnosis of acne necrotica varioliformis. This report highlights the clues and pitfalls in its diagnosis and reviews associated systemic diseases.

7.
Ann Vasc Surg ; 77: 350.e13-350.e17, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34437968

RESUMEN

Acroangiodermatitis (AAD) is often seen in association with various vascular anomalies such as venous insufficiency, vascular syndromes, and conditions associated with thrombosis. This is the first case reported in the literature associated with arteriovenous fistula stenosis in a patient with chronic kidney disease on hemodialysis. This case is being described for its rarity and to familiarize the clinicians with this unusual complication, especially, to prevent them from thinking of this condition as an infectious complication. It is essential to recognize the uniqueness of the pathophysiology of this disease and to do a clear distinction with that of a venous ulcer. With this work we also aim to help health practitioners with proper management of the condition. As we've seen, surgical treatment in appropriately selected cases corrects the reflux of the venous system and successfully improves the appearance of the verrucous lesion. Our patient was successfully treated by correcting the arteriovenous fistula stenosis with near-complete subsidence of the verrucous lesion within days of the procedure. Acroangiodermatitis management must be conducted with a multidisciplinary approach (dermatology, vascular surgery, and internal medicine). It is essential the comprehensive management of these patients, to ensure prompt recovery and avoid chronic effects, as well as to guarantee the quality of life in the future.


Asunto(s)
Acrodermatitis/etiología , Derivación Arteriovenosa Quirúrgica/efectos adversos , Oclusión de Injerto Vascular/etiología , Dermatosis de la Mano/etiología , Diálisis Renal , Insuficiencia Renal Crónica/terapia , Acrodermatitis/diagnóstico , Adulto , Diagnóstico Diferencial , Oclusión de Injerto Vascular/diagnóstico , Oclusión de Injerto Vascular/fisiopatología , Oclusión de Injerto Vascular/cirugía , Dermatosis de la Mano/diagnóstico , Hemodinámica , Humanos , Masculino , Insuficiencia Renal Crónica/diagnóstico , Reoperación , Enfermedades Cutáneas Infecciosas/diagnóstico , Infecciones de los Tejidos Blandos/diagnóstico , Resultado del Tratamiento , Cicatrización de Heridas
8.
Int J Dermatol ; 60(11): 1318-1333, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33720408

RESUMEN

Because several nail disorders share similar clinical features, their diagnosis and management can be challenging to clinicians. The physical examination may disclose localized abnormalities or point to an underlying systemic disease, requiring additional workup. Furthermore, cosmetic distress and nail-related symptoms (e.g., tingling, stinging, numbness, and pain) are common factors that influence the patient's search for medical assistance. Nail pain (i.e., onychalgia) can accompany both localized and systemic pathology. Onychalgia can be acute or chronic according to the time of evolution; patients may describe it as intermittent or constant, and as a throbbing, burning, sharp, or shooting sensation denoting the nature of the pain. It may be exacerbated by colder temperatures, touch, and increased activity (e.g., manipulating objects, walking). We present four main groups of conditions that might cause nail pain: nail tumors, nail deformities, inflammatory or infectious diseases, and external or traumatic agents. Our article includes an overview of the clinical features, as well as diagnosis and management pearls for each entity. Physicians (dermatologists and nondermatologists) should be aware that abnormalities of the ungual and subungual space are not exclusive of dermatological disorders but may also be present in noncutaneous contexts.


Asunto(s)
Enfermedades de la Uña , Uñas Malformadas , Neoplasias , Humanos , Enfermedades de la Uña/diagnóstico , Enfermedades de la Uña/terapia , Uñas , Uñas Malformadas/diagnóstico , Uñas Malformadas/terapia , Dolor/diagnóstico , Dolor/etiología
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