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International Journal of Trichology 2022A sixty years postmenopausal lady presented with growing longer eyelashes for 8 years. She had thick, dark, curly eyelashes measuring 23 mm and 15 mm at the centre and...
A sixty years postmenopausal lady presented with growing longer eyelashes for 8 years. She had thick, dark, curly eyelashes measuring 23 mm and 15 mm at the centre and periphery respectively suggesting marked trichomegaly. Increased vellus hair was noticed above lips and chin suggesting hypertrichosis. An important clue in history was the use of chemotherapeutic agent Erlotinib after bronchoscopic surgery for non-small cell lung carcinoma for the past 8 years. Erlotinib competitively binds to the tyrosine kinase domain of Epidermal Growth Factor Receptor inhibiting receptor activation and blocking the signal transduction. Thus, disrupting the transition of hair growth from anagen to telogen phase, leading to aberrant anagen phase and consequently abnormal hair growth. Trichomegaly is seen after 2-5 months of treatment. Mostly innocuous, it can lead to eyelid infections and rarely corneal ulceration. EGFR inhibitors are associated with hypertrichosis in other areas, as was the case in this patient. This case highlights the significance of detailed history including drugs, thus abating additional work-up for trichomegaly.
PubMed: 35531491
DOI: 10.4103/ijt.ijt_86_21 -
Indian Journal of Dermatology Jul 2014Becker's nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker's nevus syndrome is an association of Becker's nevus...
Becker's nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker's nevus syndrome is an association of Becker's nevus with unilateral breast hypoplasia and muscle, skin, and/or skeletal abnormalities. We here report a case of a 15 year-old female who presented with bilateral Becker's nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. She had associated mental retardation, delayed development of mile stones, delayed puberty, dwarfism, depressed nasal bridge, long slender digits, crowding of lateral toes, valgus deformity of first metatarsophalangeal joint, mitral valve prolapse, muddy conjunctiva with hypertrophic and hyperpigmented caruncle of both eyes, ichthyosis, brownish hair, and absence of axillary and pubic hair. On histopathological examination collagen hamartoma underneath the Becker's nevus was found.
PubMed: 25071279
DOI: 10.4103/0019-5154.135530 -
Boletin Medico Del Hospital Infantil de... 2023Pigmented (or melanocytic) neurofibroma (PN) constitutes only 1% of cases and is considered a rare variant of neurofibroma containing melanin-producing cells. In...
BACKGROUND
Pigmented (or melanocytic) neurofibroma (PN) constitutes only 1% of cases and is considered a rare variant of neurofibroma containing melanin-producing cells. In addition, the association of PN with hypertrichosis is infrequent.
CASE REPORT
We describe the case of an 8-year-old male with a neurofibromatosis type 1 (NF1) diagnosis, who presented a light brown hyperpigmented plaque, smooth and well-demarcated, and hypertrichosis on the left thigh. The skin biopsy showed characteristics of neurofibroma; however, in the deep portion of the lesion, melanin deposits positive for S100, Melan-A, and HMB45 were observed, thus establishing the diagnosis of pigmented neurofibroma.
CONCLUSIONS
Although PN is a rare subtype of neurofibroma, it is considered a chronically progressive benign tumor containing melanin-producing cells. These lesions can appear alone or in association with neurofibromatosis. Since this is a tumor that can be confused with other skin lesions, biopsy analysis is essential to differentiate it from other pigmented skin tumors, such as melanocytic schwannoma, dermatofibrosarcoma protuberans, neurocristic hamartoma, or neuronevus. Surveillance is part of the treatment, and surgical resection is sometimes performed.
Topics: Male; Humans; Child; Hypertrichosis; Melanins; Neurofibroma; Neurofibromatosis 1; Biopsy
PubMed: 36867567
DOI: 10.24875/BMHIM.21000197 -
Cureus Dec 2022Hormones have a close association with hair growth; thus, they have a big impact on the hair cycle and hair follicle structure. Many hormones control hair growth, cycle,... (Review)
Review
Hormones have a close association with hair growth; thus, they have a big impact on the hair cycle and hair follicle structure. Many hormones control hair growth, cycle, and density. Hair abnormalities are frequent in therapeutic practice, and they can cause severe emotional discomfort depending on societal and ethnic standards. As a result, disorders that impact the endocrine system can induce a variety of physiological hair growth and cycling alterations. Hirsutism and patterned hair loss have a significant impact on human personality. These illnesses necessitate a comprehensive approach to diagnosis and treatment. The hormonal impact on hair growth and the association of different endocrine disorders with hair changes are briefly discussed here.
PubMed: 36578854
DOI: 10.7759/cureus.32726 -
Journal of Family Medicine and Primary... Mar 2022H syndrome is a systemic inherited autosomal recessive histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations and a most common... (Review)
Review
H syndrome is a systemic inherited autosomal recessive histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations and a most common genetic mutation (OMIM 612391) as SLC29A3. The term "H Syndrome" is representative of presentation with hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and, occasionally, hyperglycemia. H syndrome is new and growing entity in medicine. This syndrome is not specific to a region or a nationality. There are very few treatment experiences on H Syndrome patients and most of them are unsatisfactory apart from hypertrichosis, which is able to treat almost permanently by hair removal lasers. Latest findings suggest that there is possibility of prevention of short stature or other cutaneous or systemic complications in this syndrome with earlier diagnosis and treatment. We searched Medline, Scopus, Web of Sciences, and Google Scholar, up to now and reviewed previous published papers with emphasis on treatment methods and its effects on certain common symptoms.
PubMed: 35495792
DOI: 10.4103/jfmpc.jfmpc_1435_21 -
Indian Journal of Endocrinology and... Nov 2012
PubMed: 23226672
DOI: 10.4103/2230-8210.103046 -
Orphanet Journal of Rare Diseases Sep 2015Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It... (Review)
Review
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichthyosiform erythroderma or with a collodion baby picture. The erythrodermic and ichthyotic phenotype persists during life and its severity may modify. However, the hallmark of the disease is the appearance, in childhood or later in life, of healthy skin confetti-like spots, which increase in number and size with time. IWC is a very rare genodermatosis, with a prevalence <1/1,000,000 and only 40 cases reported worldwide. The most important associated clinical features include ear deformities, mammillae hypoplasia, palmoplantar keratoderma, hypertrichosis and ectropion. IWC is due to dominant negative mutations in the KRT10 and KRT1 genes, encoding for keratins 10 and keratin 1, respectively. In this context, healthy skin confetti-like spots represent "repaired" skin due to independent events of reversion of keratin gene mutations via mitotic recombination. In most cases, IWC clinical suspicion is delayed until the detection of white skin spots. Clinical features, which may represent hint to the diagnosis of IWC even before appearance of confetti-like spots, include ear and mammillae hypoplasia, the progressive development of hypertrichosis and, in some patients, of adherent verrucous plaques of hyperkeratosis. Altogether the histopathological finding of keratinocyte vacuolization and the nuclear staining for keratin 10 and keratin 1 by immunofluorescence are pathognomonic. Nevertheless, mutational analysis of KRT10 or KRT1 genes is at present the gold standard to confirm the diagnosis. IWC has to be differentiated mainly from congenital ichthyosiform erythroderma. Differential diagnosis also includes syndromic ichthyoses, in particular Netherton syndrome, and the keratinopathic ichthyoses. Most of reported IWC cases are sporadic, but familial cases with autosomal dominant mode of inheritance have been also described. Therefore, knowledge of the mutation is the only way to properly counsel the couples. No specific and satisfactory therapy is currently available for IWC. Like for other congenital ichthyoses, topical treatments (mainly emollients and keratolytics) are symptomatic and offer only temporary relief. Among systemic treatments, retinoids, in particular acitretin, improve disease symptoms in most patients. Although at present there is no curative therapy for ichthyoses, treatments have improved considerably over the years and the best therapy for each patient is always the result of both physician and patient efforts.
Topics: Diagnosis, Differential; Disease Management; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Mutation
PubMed: 26381864
DOI: 10.1186/s13023-015-0336-4 -
Dermatology Online Journal Sep 2018Genital rejuvenation encompasses not only the nonsurgical interventions but also the surgical procedures that are utilized to improve the functional aspects and/or... (Review)
Review
Genital rejuvenation encompasses not only the nonsurgical interventions but also the surgical procedures that are utilized to improve the functional aspects and/or enhance the aesthetic presentation of the genitalia of women (vaginal rejuvenation) and men (scrotal rejuvenation). Vaginal rejuvenation was introduced into the medical literature in 2007; yet, within the last decade, physician and patient interest in this field has markedly increased. In contrast, the term scrotal rejuvenation was only coined in 2018. Rejuvenation of the genitalia may be considered for hair-associated (alopecia and hypertrichosis), morphology-associated (vulvovaginal atrophy, excess clitoral or labial tissue, scrotal wrinkling, and vaginal or scrotal laxity), and vascular-associated (angiokeratomas) changes of the vagina and scrotum. As women and men gain insight into the conditions that are amendable to genital rejuvenation, the demand for vaginal rejuvenation and scrotal rejuvenation will likely increase. Genital rejuvenation may become the next frontier in medical and cosmetic dermatology and dermatologists have the opportunity to provide rejuvenation of the vagina and scrotum for their patients.
Topics: Cosmetic Techniques; Female; Genitalia, Female; Humans; Male; Rejuvenation; Scrotum; Skin Aging; Skin Diseases; Vagina; Vulva
PubMed: 30677826
DOI: No ID Found -
Animals : An Open Access Journal From... Feb 2024Donkey medicine is gaining attention due to their increased use as companion animals, in shows, asinotherapy, etc. The increasing demand and unique aspects call for... (Review)
Review
Donkey medicine is gaining attention due to their increased use as companion animals, in shows, asinotherapy, etc. The increasing demand and unique aspects call for specialized care, requiring new information (physiology, infectious disorders, pharmacology, etc.). Since obesity is common in this species, hyperlipemia, metabolic syndrome and insulin dysregulation (ID) are common disorders in donkeys, in some cases with high mortality, either directly (multiorgan dysfunction) or indirectly due to poor quality of life (chronic laminitis). Donkeys have long-life expectancy and are often afflicted with pituitary pars intermedia dysfunction (PPID), a neurodegenerative and endocrine disease. Hyperlipemia is diagnosed based on high plasma triglyceride concentration in association with clinical findings and laboratory abnormalities from affected tissues (liver, kidney and pancreas). The measurement of resting serum insulin and plasma ACTH concentrations is the first step in ID and PPID diagnosis. In donkeys with clinical signs of ID (obesity or recurrent laminitis) or PPID (hypertrichosis, regional adiposity, laminitis and weight loss), where these hormones are in the normal or non-diagnostic range (donkey-specific cut-off values and reference ranges need to be established), dynamic tests are recommended (oral sugar test or thyrotropin-releasing hormone, respectively). Equine treatment protocols apply to donkeys, although pharmacological studies for most drugs, except pergolide, are lacking.
PubMed: 38396558
DOI: 10.3390/ani14040590