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A case of cicatricial female pattern hair loss was reported. A 36-year-old female patient presented with gradually aggravated hair loss for more than 10 years. Skin examination showed diffuse hair thinning on the scalp, thin and soft hairs, and some pencil eraser-sized areas of focal atrichia. TrichoScan examination revealed markedly decreased hair density on the forehead, variability in hair diameter greater than 20%, and increased proportions of vellus hairs. Dermoscopic examination showed increased numbers of vellus hairs, plenty of focal atrichia areas measuring 3 - 5 mm in diameter, loss of some follicular ostia, and confluent white dots. Histopathological examination of vertical and transverse scalp sections showed predominantly distributed miniaturized hair follicles with lichenoid folliculitis around the infundibulum and isthmus, concentrically layered perifollicular fibrosis, a marked decrease in the number of hair follicles compared with healthy people of the same age, increased proportions of vellus hairs, a large number of miniaturized hair follicles and follicular streamers, and formation of follicular micro-scars. The patient was diagnosed with cicatricial female pattern hair loss. She received topical treatment with 5% minoxidil liniment once a day, and alternate treatment with topical tacrolimus ointment and clobetasol propionate ointment, as well as oral spironolactone at a dose of 20 mg twice a day and compound glycyrrhizin capsules at a dose of 50 mg thrice a day. After half a year of treatment, there was no marked aggravation of hair loss, and the follow-up continued.
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A case of fibrosing alopecia in a pattern distribution (FAPD) and its clinicopathological, dermoscopic and TrichoScan features were reported to improve the understanding of FAPD. A 23-year-old male patient presented with progressive hair loss on the forehead and top of the head for 10 years, local hair thinning and softening, and occasional scalp itching. Skin examination showed diffuse sparseness of hair from the forehead to the top of the head, frontal hairline recession, focal thinning and softening of hair, some follicular keratotic papules and perifollicular erythema on the alopecic area, with no obvious scales. TrichoScan examination revealed markedly decreased hair density and increased proportions of vellus hairs. Dermoscopy showed loss of some follicular ostia and confluent white dots. Histopathological examination of the scalp showed lichenoid lymphocytic infiltration around the infundibulum and isthmus of hair follicles, concentrically layered perifollicular fibrosis, hair follicle destruction, formation of follicular micro-scars, markedly increased variation in the diameter of residual follicles, and some vellus hairs. The patient was diagnosed with FAPD. FAPD is easily misdiagnosed as androgenetic alopecia, and early diagnosis and treatment are needed.
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Objective To compare diagnostic performance of traditional vertical section technique,horizontal section technique and modified Ho-Vert technique for classical lichen planopilaris.Methods Clinical data were collected from patients with classical lichen planopilaris in Department of Dermatology,The Affiliated Wuxi People's Hospital of Nanjing Medical University from January 1st 2015 to January 1st 2019.With the help of dermoscopy,2 scalp specimens were obtained from each patient and sliced horizontally and vertically respectively by using modified Ho-Vert technique.The horizontal and vertical sections were read separately or simultaneously,and histopathological changes were observed.Results Totally,21 patients with classical lichen planopilaris were enrolled into this study,including 15 males and 6 females.Their age was 50.0 ± 13.6 years,and the average course of disease was 18 months.The patients mainly presented with muhifocal or confluent patchy hair loss,and scalp atrophy,perifollicular hyperkeratosis,loss of follicular ostia,fibrous white dots and orbit sign were observed.On the horizontal sections,lichenoid lymphocytic infiltration around the infundibulum and isthmus of hair follicles and follicular micro-scars could be observed in all patients,and the dermo-epidermal interface could be seen in 7 patients.On the vertical sections,lichenoid lymphocytic infiltration around the infundibulum and isthmus of hair follicles only could be observed in 9 patients,follicular micro-scars could be seen in 4,and the dermoepidermal interface could be observed in all patients.Moreover,the detection rates of interfollicular interface dermatitis,follicular keratotic plugs,lymphocytic infiltration around sebaceous glands,atrophy or disappearance of sebaceous glands and inflammatory infiltration around hair follicle bulbs were significantly different between the horizontal and vertical sections.In combination with clinical manifestations,7 patients could be exactly diagnosed with lichen planopilaris according to findings from horizontal sections,and 9 could be diagnosed exactly according to findings from vertical sections,while 21 could be diagnosed exactly according to histopathological findings from both horizontal and vertical sections.Conclusion With the help of dermoscopy,modified Ho-Vert technique can improve the efficacy of pathological diagnosis of classical lichen planopilaris,by multidimensionally showing histopathological changes.
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Objective@#To compare diagnostic performance of traditional vertical section technique, horizontal section technique and modified Ho-Vert technique for classical lichen planopilaris.@*Methods@#Clinical data were collected from patients with classical lichen planopilaris in Department of Dermatology, The Affiliated Wuxi People′s Hospital of Nanjing Medical University from January 1st 2015 to January 1st 2019. With the help of dermoscopy, 2 scalp specimens were obtained from each patient and sliced horizontally and vertically respectively by using modified Ho-Vert technique. The horizontal and vertical sections were read separately or simultaneously, and histopathological changes were observed.@*Results@#Totally, 21 patients with classical lichen planopilaris were enrolled into this study, including 15 males and 6 females. Their age was 50.0 ± 13.6 years, and the average course of disease was 18 months. The patients mainly presented with multifocal or confluent patchy hair loss, and scalp atrophy, perifollicular hyperkeratosis, loss of follicular ostia, fibrous white dots and orbit sign were observed. On the horizontal sections, lichenoid lymphocytic infiltration around the infundibulum and isthmus of hair follicles and follicular micro-scars could be observed in all patients, and the dermo-epidermal interface could be seen in 7 patients. On the vertical sections, lichenoid lymphocytic infiltration around the infundibulum and isthmus of hair follicles only could be observed in 9 patients, follicular micro-scars could be seen in 4, and the dermo-epidermal interface could be observed in all patients. Moreover, the detection rates of interfollicular interface dermatitis, follicular keratotic plugs, lymphocytic infiltration around sebaceous glands, atrophy or disappearance of sebaceous glands and inflammatory infiltration around hair follicle bulbs were significantly different between the horizontal and vertical sections. In combination with clinical manifestations, 7 patients could be exactly diagnosed with lichen planopilaris according to findings from horizontal sections, and 9 could be diagnosed exactly according to findings from vertical sections, while 21 could be diagnosed exactly according to histopathological findings from both horizontal and vertical sections.@*Conclusion@#With the help of dermoscopy, modified Ho-Vert technique can improve the efficacy of pathological diagnosis of classical lichen planopilaris, by multidimensionally showing histopathological changes.
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Alopecia is a common disease in dermatologic clinics.The diagnosis of some hair diseases does not rely on pathological examinations,and with the development of science and technology,the role of many new non-invasive detection instruments,such as dermoscopy,hair scanners and skin CT,is increasingly valued in the diagnosis and treatment of hair diseases.However,the role of pathological examination is still irreplaceable.Because of the particularity of hair diseases,hair pathology differs from common skin pathology in the aspects of scalp biopsy sites,biopsy methods and techniques,tissue-slicing methods and pathological report content.This review systematically discusses the role of scalp pathological biopsy in the diagnosis and treatment of alopecia.
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<p><b>OBJECTIVE</b>To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.</p><p><b>METHODS</b>Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.</p><p><b>RESULTS</b>A missense mutation c.1484C>T (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2A>G was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.</p><p><b>CONCLUSION</b>Mutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.</p>
Subject(s)
Aged , Child , Female , Humans , Male , Alternative Splicing , Genetics , Base Sequence , DNA Mutational Analysis , Darier Disease , Genetics , Family Health , Genetic Predisposition to Disease , Genetics , Mutation, Missense , Pedigree , Point Mutation , Sarcoplasmic Reticulum Calcium-Transporting ATPases , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To detect FLG gene mutations in 10 families affected with ichthyosis vulgaris and to explore mutational hot spot of the FLG gene in Chinese Han population.</p><p><b>METHODS</b>PCR and direct sequencing were carried out to identify potential mutations of the FLG gene in above families. One hundred healthy individuals were analyzed as normal controls.</p><p><b>RESULTS</b>Three mutations (3321delA, 5757delCCAG and S2706X) were identified in 7 families. A homozygous mutation 3321delA was also detected in two unrelated patients. No mutations were found in the remaining three families. Neither of the null mutations (5757delCCAG and S2706X) was found in the 100 controls. However, for 3321delA, a heterozygous mutation was also found in two of the controls.</p><p><b>CONCLUSION</b>Three FLG mutations have been identified in the selected families with ichthyosis vulgaris, and the 3321delA mutation was most prevalent (46.9%). Mutations 5757delCCAG and S2706X were first found in patients with ichthyosis vulgaris. Other candidate genes may underlie the disease in those without a FLG mutation.</p>
Subject(s)
Female , Humans , Male , Asian People , Base Sequence , China , Genotype , Ichthyosis Vulgaris , Genetics , Intermediate Filament Proteins , Genetics , Mutation , Pedigree , PhenotypeABSTRACT
<p><b>OBJECTIVE</b>To detect the genomic deletion mutation in the NEMO gene of a family with incontinentia pigmenti (IP; MIM 308310).</p><p><b>METHODS</b>A pedigree of IP was investigated. By using long PCR, the Delta4-10 deletion in NEMO gene was tested with specific primers In2/JF3R, and Delta4-10 deletion in pseudogene DeltaNEMO was investigated with primers Rev-2/JF3R. NEMO gene of 80 normal controls was also tested.</p><p><b>RESULTS</b>The deletion of exons 4-10 in both NEMO gene and the pseudogene DeltaNEMO was detected in all the patients in the family, but was not found in the normal individuals in this IP family and 80 unrelated controls.</p><p><b>CONCLUSION</b>The study showed that the family with IP, which showed anticipation, was caused by NEMODelta4-10 deletion in the NEMO gene. Long PCR analysis is proven to be an efficient tool for identification of NEMO rearrangements. It could provide useful information for the genetic counseling of the family involved.</p>