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1.
Australas J Dermatol ; 64(1): e72-e75, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36320094

RESUMEN

Porokeratosis encompass a group of acquired and familial, preneoplastic, keratinization disorders, clinically characterized by atrophic macules or patches with a peripheral keratotic rim, the cornoid lamella. Genetic background is recognized as crucial in its pathophysiology, while immunosuppression and ultraviolet radiation represent triggering factors. We report the case of a woman who developed disseminate superficial actinic porokeratosis following the intake of hydroxyurea for a polycythaemia vera. Clinical, dermoscopic and histopathology data are showed, and the role of drug as a second-hit mutation trigger is discussed.


Asunto(s)
Queratosis Actínica , Poroqueratosis , Femenino , Humanos , Poroqueratosis/inducido químicamente , Poroqueratosis/tratamiento farmacológico , Poroqueratosis/patología , Hidroxiurea/efectos adversos , Rayos Ultravioleta
5.
Genes (Basel) ; 14(5)2023 05 14.
Artículo en Inglés | MEDLINE | ID: mdl-37239440

RESUMEN

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The SPINK5 (NM_006846.4): c.1258A>G polymorphism (rs2303067) shows a significant association with atopy and atopic dermatitis (AD), which share several clinical features with NS. We describe an NS patient, initially misdiagnosed with severe AD, who carried the heterozygous frameshift (null) mutation (NM_006846.4): c.957_960dup combined with homozygous rs2303067 in the SPINK5 gene. Histopathological examination confirmed the diagnosis, whereas an immunohistochemical study showed normal epidermal expression of LEKTI, despite the genetic findings. Our results corroborate the hypothesis that haploinsufficiency of SPINK5, in the presence of a SPINK5 null heterozygous mutation in combination with homozygous SPINK5 rs2303067 polymorphism, can be causative of an NS phenotype, impairing the function of LEKTI despite its normal expression. Due to the clinical overlap between NS and AD, we suggest performing SPINK5 genetic testing to search for the SPINK5 (NM_006846.4): c.1258A>G polymorphism (rs2303067) and ensure a correct diagnosis, mainly in doubtful cases.


Asunto(s)
Dermatitis Atópica , Eritrodermia Ictiosiforme Congénita , Síndrome de Netherton , Humanos , Mutación del Sistema de Lectura , Síndrome de Netherton/genética , Inhibidor de Serinpeptidasas Tipo Kazal-5/genética , Mutación , Eritrodermia Ictiosiforme Congénita/genética , Dermatitis Atópica/genética
6.
Int J STD AIDS ; 33(7): 728-730, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35487222

RESUMEN

Although primary syphilis generally involves the genitalia, literature reports that 12% of chancres are extragenital, with the anus and oral cavity as the most frequent locations. We present hereby a case series of four chancres of the finger observed at the sexually transmitted infection centre of Milan between 2010 and 2021.


Asunto(s)
Chancro , Enfermedades de Transmisión Sexual , Sífilis , Canal Anal , Chancro/diagnóstico , Chancro/tratamiento farmacológico , Humanos , Sífilis/diagnóstico , Sífilis/tratamiento farmacológico
7.
Skin Appendage Disord ; 8(6): 500-503, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36407637

RESUMEN

Introduction: Morphea, also known as localized scleroderma, could affect the head and neck region, mainly manifesting in a linear pattern. Localized scleroderma of the scalp presenting as a circumscribed alopecic patch has been described as an unusual clinical entity. We present a new case of circumscribed morphea of the scalp. Case Report: We present the case of a 33-year-old man with a single cicatricial alopecic patch of the scalp. The main clinical, trichoscopic, and histopathological findings are described. Conclusion: We suggest considering scalp morphea in the differential diagnosis of mono-lesional cicatricial alopecia involving the scalp.

8.
Org Lett ; 22(6): 2129-2134, 2020 03 20.
Artículo en Inglés | MEDLINE | ID: mdl-32154727

RESUMEN

The role of the Cl- anion as a templating agent for the synthesis of cyclopeptides was assessed through the preparation of three new homocyclolysines and other six cyclic peptides by head-to-tail lactamization. Isolated yields of products obtained by chloride-templating approach were considerably higher than those gained by a cation-promoted procedure, whereby, in some cases, only the anion-assisted synthesis yielded the desired cyclopeptides.

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