A review of genotrichoses and hair pathology associated with inherited skin diseases
Br J Dermatol. 2023 Mar 29:ljad102. doi: 10.1093/bjd/ljad102. Online ahead of print.ABSTRACTGenetic hair disorders, also known as genotrichoses, are characterized by abnormalities of hair structure, growth, or differentiation, giving rise to a spectrum of phenotypes such as hypertrichosis, hypotrichosis and atrichia. These disorders may present as isolated phenotypes or be part of more complex phenotypes including abnormalities in skin or other organs. Genetic discoveries for hair disorders have been recently augmented with the advent of next-generation sequencing (NGS) technologies. We reviewed the literature and summaris...
Source: The British Journal of Dermatology - March 29, 2023 Category: Dermatology Authors: Brent J Doolan Tuntas Rayinda Frank P Chiu John A McGrath Alexandros Onoufriadis Source Type: research
BIOBADATOP Spanish Atopic Dermatitis Registry: Description and Early Findings
CONCLUSIONS: Initial findings on AEs from the Spanish BIOBADATOP registry are limited by short follow-up times precluding comparisons or calculation of crude and adjusted incidence rates. At the time of our analysis, no severe AEs had been reported for novel systemic therapies. BIOBADATOP will help answer questions on the effectiveness and safety of conventional and novel systemic therapies in AD.PMID:36935039 | DOI:10.1016/j.ad.2023.03.001 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - March 19, 2023 Category: Dermatology Authors: M Munera-Campos P Chicharro A Gonzalez Quesada A Florez Menendez P de la Cueva Dovao A M Gimenez Arnau Y Gilaberte Calzada M Rodr íguez Serna T Montero J F Silvestre Salvador M Elosua Gonz ález E Del Alcazar C Santamar ía J S ánchez-Pérez G Carretero Source Type: research
BIOBADATOP Spanish Atopic Dermatitis Registry: Description and Early Findings
CONCLUSIONS: Initial findings on AEs from the Spanish BIOBADATOP registry are limited by short follow-up times precluding comparisons or calculation of crude and adjusted incidence rates. At the time of our analysis, no severe AEs had been reported for novel systemic therapies. BIOBADATOP will help answer questions on the effectiveness and safety of conventional and novel systemic therapies in AD.PMID:36935039 | DOI:10.1016/j.ad.2023.03.001 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - March 19, 2023 Category: Dermatology Authors: M Munera-Campos P Chicharro A Gonzalez Quesada A Florez Menendez P de la Cueva Dovao A M Gimenez Arnau Y Gilaberte Calzada M Rodr íguez Serna T Montero J F Silvestre Salvador M Elosua Gonz ález E Del Alcazar C Santamar ía J S ánchez-Pérez G Carretero Source Type: research
BIOBADATOP Spanish Atopic Dermatitis Registry: Description and Early Findings
CONCLUSIONS: Initial findings on AEs from the Spanish BIOBADATOP registry are limited by short follow-up times precluding comparisons or calculation of crude and adjusted incidence rates. At the time of our analysis, no severe AEs had been reported for novel systemic therapies. BIOBADATOP will help answer questions on the effectiveness and safety of conventional and novel systemic therapies in AD.PMID:36935039 | DOI:10.1016/j.ad.2023.03.001 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - March 19, 2023 Category: Dermatology Authors: M Munera-Campos P Chicharro A Gonzalez Quesada A Florez Menendez P de la Cueva Dovao A M Gimenez Arnau Y Gilaberte Calzada M Rodr íguez Serna T Montero J F Silvestre Salvador M Elosua Gonz ález E Del Alcazar C Santamar ía J S ánchez-Pérez G Carretero Source Type: research
BIOBADATOP Spanish Atopic Dermatitis Registry: Description and Early Findings
CONCLUSIONS: Initial findings on AEs from the Spanish BIOBADATOP registry are limited by short follow-up times precluding comparisons or calculation of crude and adjusted incidence rates. At the time of our analysis, no severe AEs had been reported for novel systemic therapies. BIOBADATOP will help answer questions on the effectiveness and safety of conventional and novel systemic therapies in AD.PMID:36935039 | DOI:10.1016/j.ad.2023.03.001 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - March 19, 2023 Category: Dermatology Authors: M Munera-Campos P Chicharro A Gonzalez Quesada A Florez Menendez P de la Cueva Dovao A M Gimenez Arnau Y Gilaberte Calzada M Rodr íguez Serna T Montero J F Silvestre Salvador M Elosua Gonz ález E Del Alcazar C Santamar ía J S ánchez-Pérez G Carretero Source Type: research
BIOBADATOP Spanish Atopic Dermatitis Registry: Description and Early Findings
CONCLUSIONS: Initial findings on AEs from the Spanish BIOBADATOP registry are limited by short follow-up times precluding comparisons or calculation of crude and adjusted incidence rates. At the time of our analysis, no severe AEs had been reported for novel systemic therapies. BIOBADATOP will help answer questions on the effectiveness and safety of conventional and novel systemic therapies in AD.PMID:36935039 | DOI:10.1016/j.ad.2023.03.001 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - March 19, 2023 Category: Dermatology Authors: M Munera-Campos P Chicharro A Gonzalez Quesada A Florez Menendez P de la Cueva Dovao A M Gimenez Arnau Y Gilaberte Calzada M Rodr íguez Serna T Montero J F Silvestre Salvador M Elosua Gonz ález E Del Alcazar C Santamar ía J S ánchez-Pérez G Carretero Source Type: research
Al ‐Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2‐related disorders
AbstractLethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short nec...
Source: Journal of Bone and Mineral Research - March 11, 2023 Category: Orthopaedics Authors: Dominyka Batkovskyte,
Fiona McKenzie,
Fulya Taylan,
Pelin Ozlem Simsek ‐Kiper,
Sarah M. Nikkel,
Hirofumi Ohashi,
Roger E. Stevenson,
Thuong Ha,
Denise P. Cavalcanti,
Hiroyuki Miyahara,
Steven A. Skinner,
Miguel A. Aguirre,
Zühal Akçören, Tags: Research Article Source Type: research
Through the Looking Glass: Skin Signs that Help Diagnose Eating Disorders
Eating disorders (EDs) such as anorexia nervosa and bulimia nervosa have a plethora of skin manifestations. They can be categorized into skin signs of self-purging, skin signs of starvation, skin signs related to drug abuse, skin signs of psychiatric comorbidity, and miscellaneous signs. “Guiding signs” are valuable, because they are pointers to the diagnosis of an ED. They include hypertrichosis (lanugo-like hair), Russell's sign (knuckle calluses), self-induced dermatitis, and perimylolysis (tooth enamel erosion). (Source: Clinics in Dermatology)
Source: Clinics in Dermatology - March 4, 2023 Category: Dermatology Authors: Caroline Stamu-Obrien, Swathi Shivakumar, Tassahil Messas, George Kroumpouzos Source Type: research
Cant ú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up
We report on a 7-year-old girl with congenital generalized hypertrichosis, coarse facial appear ance and cardiac involvement, with a de novo heterozygous mutation (c.3461G > A) in the ABCC9 gene. During the annual cardiac follow-up at the age of nine the echocardiogram showed mild left ventricular dilatation in consideration of which she started ramipril treatment. The progression of the clinical manifestations of Cantú syndrome highlights the relevance of an early diagnosis, including genetic analysis, and a multidisciplinary approach with long-term follow-up. (Source: Clinical Case Reports)
Source: Clinical Case Reports - March 2, 2023 Category: General Medicine Authors: Alessandra Mattiucci,
Giampiero Girolomoni,
Matteo Cassina,
Thomas Zoller,
Franco Antoniazzi,
Donatella Schena Tags: CASE REPORT Source Type: research
Postsurgical transient hypertrichosis around healing wound after total knee arthroplasty: A case report
Wipawan Vathananai, Chinmanat LekhavatIndian Journal of Dermatology 2022 67(6):835-835
Hypertrichosis is a condition characterized by the presence of an abnormal increase in the number of hairs and either occurs in a localized pattern or a generalized pattern. Localized hypertrichosis around a healing wound is an infrequent postsurgical complication. A 60-year-old Asian man came for a consultation because of an increase in the amount of hair around his 2-month postsurgical wound of right knee arthroplasty. Neither history of topical medications nor systemic medications, which can cause hypertrichosis, were presented. A di...
Source: Indian Journal of Dermatology - February 23, 2023 Category: Dermatology Authors: Wipawan Vathananai Chinmanat Lekhavat Source Type: research
561 Vellus-to-terminal hair follicle reconversion does occur in male pattern balding in a new humanized mouse model of androgenetic alopecia and is promoted by minoxidil and PRP
Based on trichogram evidence, it has been claimed that, once terminal (T) scalp hair follicles (HFs) have been fully miniaturized into vellus (V) HFs in androgenetic alopecia (AGA), these cannot be reconverted into T HFs, even under therapy (Rushton et al. Exp Dermatol 2022). If true, this would mandate early intervention in AGA management, and would render hair transplantation the only meaningful therapy for late-stage AGA. Given that hypertrichosis-inducing drugs and hormones can rapidly induce V-T HF conversion, we wished to probe the validity of this provocative postulate by generating irrefutable histological evidence...
Source: Journal of Investigative Dermatology - November 18, 2022 Category: Dermatology Authors: A. Keren, R. Paus, A. Gilhar Source Type: research
563 CsA-induced hypertrichosis might be caused in part by inhibition of TGF- β2 expression in dermal papilla cells.
Cyclosporin A (CsA), an immunosuppressant, is known to exhibit hypertrichosis as a side effect. This compound prolongs human hair growth in a hair follicle organ culture system. Thus, CsA has anagen-prolonging activity, but the mechanism of the action is unclear. In immunosuppression, CsA binds to cyclophilin (CyP) to form a complex that inhibits the activity of a phosphatase, calcineurin (CaN), which in turn inhibits the nuclear translocation of NFAT, a transcription factor involved in the expression of IL-2 and other proteins. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 18, 2022 Category: Dermatology Authors: K. Hagiwara, H. Kitamura, Y. Tsuchiya, A. Mizoshiri, T. Iwabuchi Source Type: research
Functional recovery after reduced pediatric fractures of the forearm with respect to perceived limitations, common post-traumatic symptoms, range of motion, and dexterity: a prospective study
CONCLUSIONS: Mild limitations are common. Further investigation of the association between pain, reduced sensitivity and hypertrichosis with treatment invasiveness is warranted. Regarding ROM supination, pronation, palmar and dorsal flexion should be incorporated in future studies. Dexterity is an unsuitable outcome measure.IMPLICATIONS FOR REHABILITATIONThis study relates to monitoring recovery from pediatric forearm fractures.Physicians ought to realize that one in four children experience limitations preceding 3 months post-trauma, in which case involvement of a hand therapist should be considered.Pain, swelling and esp...
Source: Disability and Rehabilitation - October 10, 2022 Category: Rehabilitation Authors: Ann M Hepping Britt Barvelink Joris J W Ploegmakers Job van der Palen Jan H B Geertzen Sjoerd K Bulstra Jorrit S Harbers Martin Stevens Source Type: research
Functional recovery after reduced pediatric fractures of the forearm with respect to perceived limitations, common post-traumatic symptoms, range of motion, and dexterity: a prospective study
CONCLUSIONS: Mild limitations are common. Further investigation of the association between pain, reduced sensitivity and hypertrichosis with treatment invasiveness is warranted. Regarding ROM supination, pronation, palmar and dorsal flexion should be incorporated in future studies. Dexterity is an unsuitable outcome measure.IMPLICATIONS FOR REHABILITATIONThis study relates to monitoring recovery from pediatric forearm fractures.Physicians ought to realize that one in four children experience limitations preceding 3 months post-trauma, in which case involvement of a hand therapist should be considered.Pain, swelling and esp...
Source: Disability and Rehabilitation - October 10, 2022 Category: Rehabilitation Authors: Ann M Hepping Britt Barvelink Joris J W Ploegmakers Job van der Palen Jan H B Geertzen Sjoerd K Bulstra Jorrit S Harbers Martin Stevens Source Type: research
