Decision letter for "A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans"

2020 ◽  
Vol 98 (2) ◽  
pp. 116-125 ◽  
Author(s):  
Georges Nemer ◽  
Nehme El‐Hachem ◽  
Edward Eid ◽  
Lamiaa Hamie ◽  
Tara Bardawil ◽  
...  

2021 ◽  
Vol 8 (1) ◽  
pp. e000514
Author(s):  
Adrienne K Joseph ◽  
Brandon Windsor ◽  
Linda S Hynan ◽  
Benjamin F Chong

ObjectiveEpidemiological studies have shown that discoid lupus erythematosus (DLE) has a higher incidence and prevalence in racial/ethnic minority groups, particularly Black individuals. The objective of this retrospective cohort study was to identify the differences in DLE lesion distribution and characteristics in Black individuals compared with non-Black individuals.Methods183 patients with DLE (112 Black patients and 71 non-Black patients) with a reported race/ethnicity and Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) scores were included in this retrospective cohort study. Univariate analysis was performed to determine significant differences in demographic data, clinical characteristics, DLE lesion distribution and DLE lesion characteristics in Black and non-Black patients with DLE. Multivariable logistic regression was preformed to determine significant predictors of DLE lesion location and characteristics.ResultsBlack patients with DLE had worse baseline CLASI damage scores compared with non-Black patients with DLE (median (IQR): 10.0 (6.0–14.5) vs 6.0 (3.0–10.0), p<0.001) and had 48.9 greater odds of dyspigmentation in any anatomical location (p<0.001). Black patients had 2.54 greater odds of having scalp involvement (p=0.015) and 1.97 greater odds of having ear involvement (p=0.032) compared with non-Black patients. Black patients also had greater odds of scalp dyspigmentation (OR=5.85, p<0.001), ear dyspigmentation (OR=2.89, p=0.001) and scarring alopecia (OR=3.00, p=0.001) compared with non-Black patients.ConclusionsSigns of disease damage, particularly ear dyspigmentation, scalp dyspigmentation and scarring alopecia, can more frequently affect Black patients with DLE. Recognising differences in clinical presentation of DLE among Black patients can assist future efforts with understanding biological, cultural, psychosocial and systemic factors that influence DLE presentation and outcomes in Black patients and may guide clinicians when counselling Black patients.


Author(s):  
Ashwini S. Khadatkar ◽  
Nishant B. Ghodake

Background: Many studies have been published on dermoscopy of hair and scalp disorders in the past few years, but these have been mainly carried out in western countries. Indian skin is mainly type IV and V and has its own unique set of problems and pathological findings. Hence, we conducted a study at our institute to study the dermoscopic patterns of various cicatricial alopecias.Methods: This was a descriptive study conducted in the Dermatology outpatient department, Skinaccess clinics, Nashik, between August 2014 to June 2016. The most common and characteristic feature seen in patients with cicatricial alopecia was hair follicle effacement seen in all 24 patients (100%). Hair follicle plugging was seen in 6 (25%) patients with DLE, and one patient with idiopathic scarring. Hyperkeratotic perifollicular scaling was seen in 2 patients with lichen plano pilaris. Perifollicular hyperpigmentation was seen in one patient of discoid lupus erythematosus (DLE) and 2 patients with idiopathic scarring. Hair casts were seen in 2 patients with lichen plano pilaris, and in one patient with idiopathic scarring. Patchy depigmentation was seen in 4 patients with discoid lupus erythematosus, 3 patients with idiopathic scarring, and one patient with lichen plano pilaris.Results: The most common and characteristic feature seen in patients with cicatricial alopecia was hair follicle effacement seen in all 24 patients (100%). Hair follicle plugging was seen in 6 (25%) patients with DLE, and one patient with idiopathic scarring. Hyperkeratotic perifollicular scaling was seen in 2 patients with lichen plano pilaris. Perifollicular hyperpigmentation was seen in one patient of discoid lupus erythematosus (DLE) and 2 patients with idiopathic scarring. Hair casts were seen in 2 patients with lichen plano pilaris, and in one patient with idiopathic scarring. Patchy depigmentation was seen in 4 patients with discoid lupus erythematosus, 3 patients with idiopathic scarring, and one patient with lichen plano pilaris.Conclusions: Hair follicle effacement is a characteristic dermoscopic feature of cicatricial alopecia. Hair follicle plugging, patchy depigmentation and red dots are seen in DLE. In lichen plano pilaris the dermoscopic findings of blue dots, white dots and perifollicular scaling were found to be useful for making an accurate diagnosis. Perifollicular scaling and tufting of hair is characteristically seen in patients with folliculitis decalvans. Dermoscopy is very useful in differentiating cicatricial from non-cicatricial alopecias. A biopsy obtained from the peripheral edge of the patch is more likely to show diagnostic features than the central portion. Dermoscopic guided biopsies were shown to yield definitive pathological diagnosis in 95% of the cases. Hair shaft disorders can be easily diagnosed by dermoscopy, without the need for hair.


1992 ◽  
Vol 126 (4) ◽  
pp. 307-314 ◽  
Author(s):  
C.L. WILSON ◽  
S.M. BURGE ◽  
D. DEAN ◽  
R.P.R. DAWBER

2014 ◽  
Vol 6 (2) ◽  
pp. 69-72
Author(s):  
Ljubka Miteva ◽  
Valentina Broshtilova ◽  
Robert A. Schwartz

Abstract A 22-year-old woman with a 3-year history of discoid lupus erythematosus presented with two circumscribed patches of non-scarring alopecia, clinically simulating alopecia areata. Histopathological analysis of scalp lesions revealed discoid lupus erythematosus. Based on the clinical history, physical examination, and histological and immunological findings, we distinguished our case from a true combination of alopecia areata and typical chronic discoid lupus erythematosus.


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