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Hair dysplasias
Published in Pierre Bouhanna, Eric Bouhanna, The Alopecias, 2015
Juan Ferrando, L. Alheli Niebla, Gerardo A. Moreno-Arias
Woolly hair is defined as the presence of curly, flat, and thinner than normal hair in Caucasians in contrast to black individuals in whom hair is normally flat and curly. Three different groups of woolly hair are recognized: (a) generalized or diffuse woolly hair (congenital and AD or AR), (b) woolly hair nevus (congenital and sporadic, localized or multifocal, associated or not), and (c) acquired woolly hair (progressive curly hair, partial and diffuse, mainly). The generalized or diffuse variant rarely occurs and may affect the entire scalp. It may be associated with alteration of keratinization, and eye, teeth, and bone defects, among others.86–88
Successful treatment of hereditary hypotrichosis simplex by platelet rich plasma injection with topical minoxidil 2%
Published in Journal of Dermatological Treatment, 2023
Wafaa M. Ramadan, Arwa M. Hassan, Esraa E. El-Hawary, Nesrin S. Gomaa
Children with congenital hypotrichosis generally do not improve with puberty (7). There is no specific treatment for hypotrichosis simplex, counseling is the mainstay of management (8). However, few trials have been demonstrated in literature (6,9). Minoxidil was used with improvement of a case of congenital hypotrichosis due to autosomal recessive wooly hair. The improvement was explained by the effect of the drug on cell growth, anagen duration and follicular size (10). Recently, low dose sublingual minoxidil used in treatment of diffuse congenital hereditary generalized hypotrichosis with associated hair shaft fragility in a 5-year-old girl (11). Topical gentamicin is another modality which has been used in treatment of cases with HHS (9). Authors claimed that gentamicin can improve corneodesmosin synthesis and attenuate hair affection severity in patients with HHS (8). In the current trial, PRP was used in addition to minoxidil and showed good results. These findings can be explained by the stimulatory effect of the PRP growth factors on the hair follicle which improves its survival, activity, and counteracts the suppressive effect of the truncated proteins accumulated within the hair follicle interfering with its normal function.
Naxos disease – a narrative review
Published in Expert Review of Cardiovascular Therapy, 2020
Marianna Leopoulou, Gustav Mattsson, Jo Ann LeQuang, Joseph V Pergolizzi, Giustino Varrassi, Marita Wallhagen, Peter Magnusson
The Naxos disease phenotype is categorized into cardiac manifestations and extracardiac characteristics. Typically, woolly, rough, dull hair that was apparent from birth [9], and diffuse non-epidermolytic palmoplantar keratoderma, which developed during the first year of life, as soon as the child started using hands and feet, were present in all patients [9]. Some patients present with short fingers, curved nails, and small arms and hands [2]. In more detail, patients’ lesions were described as tight woolly hair and diffuse palmoplantar keratosis, occasionally erythematous, not extending to the dorsal area. Furthermore, those lesions are reported to have clear borders [14]. Hypo/oligodontia has also been reported in association with the phenotype of woolly hair, keratoderma, and cardiomyopathy [15].
Revisiting the Newly Modified Criteria for Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) and Reporting Newly Identified Genes
Published in Fetal and Pediatric Pathology, 2022
Eric Chang, Rania Daboul, Abdul Hanan, Mena Abdo, Janet Poulik, Hany Eskarous, Anna Maria Hadjilambris, Bahig M. Shehata
Most of these genes are inherited in an autosomal dominant pattern. The desmosomal genes can also be inherited in an autosomal recessive pattern. Included in these autosomal recessive genes are those associated with Carvajal syndrome (ARVC8) and Naxos disease (ARVC12) [4,11]. Carvajal syndrome and Naxos disease are congenital syndromes, which are part of the spectrum of ARVC/D in the pediatric population. These patients present with wooly hair, palmoplantar keratoderma, and cardiomyopathy [32]. Most of these genes encode desmosomal proteins.