Pub Date : 2025-03-01Epub Date: 2025-11-04DOI: 10.4103/ijt.ijt_26_24
V S Sourabhya Sivan, Abel Francis
Trichodaganomania is a little-known condition characterized by an uncontrollable urge to bite one's own hair. Close differential diagnoses for this condition include alopecia areata and trichotillomania, but a history of hair biting can provide a clear diagnosis. These patients may require a multifaceted approach, including psychological, psychiatric, and dermatological interventions. We report a case of a 62-year-old male who presented with a hairless patch over his mustache and had been habitually biting his mustache hair for the past several months. He was treated with counseling and placebo medication. In case of recurrence, further psychological and psychiatric evaluation and treatment may be warranted accordingly.
{"title":"Trichodaganomania: A Curious Habit.","authors":"V S Sourabhya Sivan, Abel Francis","doi":"10.4103/ijt.ijt_26_24","DOIUrl":"https://doi.org/10.4103/ijt.ijt_26_24","url":null,"abstract":"<p><p>Trichodaganomania is a little-known condition characterized by an uncontrollable urge to bite one's own hair. Close differential diagnoses for this condition include alopecia areata and trichotillomania, but a history of hair biting can provide a clear diagnosis. These patients may require a multifaceted approach, including psychological, psychiatric, and dermatological interventions. We report a case of a 62-year-old male who presented with a hairless patch over his mustache and had been habitually biting his mustache hair for the past several months. He was treated with counseling and placebo medication. In case of recurrence, further psychological and psychiatric evaluation and treatment may be warranted accordingly.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 2","pages":"128-129"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12646531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145633785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sarcoidosis is a granulomatous disease that can affect multiple organs, with cutaneous manifestations occurring in about 25% of patients. Tattooing, including the newer technique of eyebrow micropigmentation, is known to trigger sarcoidosis in genetically predisposed individuals. This study reviews the case of a 55-year-old female who developed sarcoidal reaction (SR) on her eyebrows 3 years after undergoing micropigmentation. The patient presented with erythematous, scaly plaques and partial madarosis. A biopsy-confirmed cutaneous SR and systemic disease was ruled out. Treatment involved intralesional corticosteroids followed by systemic therapy with hydroxychloroquine and oral prednisone, leading to clinical improvement. The case highlights the potential for micropigmentation to induce SR, emphasizing the importance of early diagnosis and a multidisciplinary approach. Dermatologists should be vigilant in recognizing cutaneous SR in patients with new-onset skin lesions after micropigmentation and consider both local and systemic treatments based on disease severity. This case also underscores the psychosocial impact of facial involvement, emphasizing the need for comprehensive care.
{"title":"Sarcoidal Reaction of the Eyebrows after Micropigmentation: A Review of Therapeutic Approaches.","authors":"Marinna Sampaio Campos, Loanda Oliveira Fukuma, Juliana Carvalho Delgado, Karla Calaça Kabbach Prigenzi, Sandra Lopes Mattos E Dinato, Hudson Dutra Rezende","doi":"10.4103/ijt.ijt_114_24","DOIUrl":"https://doi.org/10.4103/ijt.ijt_114_24","url":null,"abstract":"<p><p>Sarcoidosis is a granulomatous disease that can affect multiple organs, with cutaneous manifestations occurring in about 25% of patients. Tattooing, including the newer technique of eyebrow micropigmentation, is known to trigger sarcoidosis in genetically predisposed individuals. This study reviews the case of a 55-year-old female who developed sarcoidal reaction (SR) on her eyebrows 3 years after undergoing micropigmentation. The patient presented with erythematous, scaly plaques and partial madarosis. A biopsy-confirmed cutaneous SR and systemic disease was ruled out. Treatment involved intralesional corticosteroids followed by systemic therapy with hydroxychloroquine and oral prednisone, leading to clinical improvement. The case highlights the potential for micropigmentation to induce SR, emphasizing the importance of early diagnosis and a multidisciplinary approach. Dermatologists should be vigilant in recognizing cutaneous SR in patients with new-onset skin lesions after micropigmentation and consider both local and systemic treatments based on disease severity. This case also underscores the psychosocial impact of facial involvement, emphasizing the need for comprehensive care.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 2","pages":"151-153"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12646518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145633680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anagen effluvium, the sudden onset of massive hair loss, usually occurs a few days to weeks after an insult like chemotherapy, radiotherapy, toxin exposure, and alopecia areata. Poisonous plant-induced anagen effluvium is a rare clinical presentation. Gloriosa superba is a creeper that abundantly grows in tropical countries such as Africa and South Asia. It is a cash crop with high colchicine content in all its parts. Accidental or deliberate consumption of G. superba tubers is common in tropical countries due to its easy availability. Within hours after consumption, vomiting, abdominal pain, diarrhea occur followed by bone marrow suppression and multi-organ failure in case of severe poisoning. After weeks of these acute manifestations, most of the patients experience excessive hair loss due to dystrophic anagen effluvium. The management of G. superba poisoning is symptomatic. The hair regrowth is usually spontaneous and complete. We report a case of accidental poisoning of G. superba tubers in a 38-year-old female presenting to a dermatologist with anagen effluvium.
{"title":"<i>Gloriosa superba</i> Poisoning-induced Anagen Effluvium.","authors":"Vinupriya Sakkaravarthi, Arun Somasundaram, Sowmya Aithal","doi":"10.4103/ijt.ijt_41_24","DOIUrl":"https://doi.org/10.4103/ijt.ijt_41_24","url":null,"abstract":"<p><p>Anagen effluvium, the sudden onset of massive hair loss, usually occurs a few days to weeks after an insult like chemotherapy, radiotherapy, toxin exposure, and alopecia areata. Poisonous plant-induced anagen effluvium is a rare clinical presentation. <i>Gloriosa superba</i> is a creeper that abundantly grows in tropical countries such as Africa and South Asia. It is a cash crop with high colchicine content in all its parts. Accidental or deliberate consumption of <i>G. superba</i> tubers is common in tropical countries due to its easy availability. Within hours after consumption, vomiting, abdominal pain, diarrhea occur followed by bone marrow suppression and multi-organ failure in case of severe poisoning. After weeks of these acute manifestations, most of the patients experience excessive hair loss due to dystrophic anagen effluvium. The management of <i>G. superba</i> poisoning is symptomatic. The hair regrowth is usually spontaneous and complete. We report a case of accidental poisoning of <i>G. superba</i> tubers in a 38-year-old female presenting to a dermatologist with anagen effluvium.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 2","pages":"130-132"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12646530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145633676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-01Epub Date: 2025-11-04DOI: 10.4103/ijt.ijt_72_24
Gabriela Fiorese, Natalia Caballero Uribe, Ralph Michel Trüeb
Morgellons disease remains a poorly understood condition, while the general medical consensus is that it is a form of delusional parasitosis in which individuals have sores they believe contain fibers. In fact, Morgellons disease may represent a culture-bound syndrome, i.e., a combination of psychiatric and somatic symptoms that are considered to be a recognizable disease within a specific society or culture. We present a case of Morgellons-like disease of the scalp and discuss its relationship to psychopathology and specific features of the scalp microenvironment. The propositus suffered from an obsessive-compulsive disorder with a delusional overlay or rather belief system. Lesions were successfully treated with lesional botulinum toxin injections. The particular features of the hair and scalp with a microenvironment of microbes, parasites, and pollutants may contribute to the itching phenomenon and produce some debris that may be misinterpreted in its origins and pathogenicity. This case presentation exemplifies that the presence of multicolored filaments is neither specific nor of any diagnostic value. Botulinum toxin proved effective by virtue of its interference with neuropeptide substance P and acetylcholine as key players in the interaction between emotional shifts and bodily sensations, specifically of the hair and scalp.
{"title":"Morgellons-like Disease of the Scalp.","authors":"Gabriela Fiorese, Natalia Caballero Uribe, Ralph Michel Trüeb","doi":"10.4103/ijt.ijt_72_24","DOIUrl":"https://doi.org/10.4103/ijt.ijt_72_24","url":null,"abstract":"<p><p>Morgellons disease remains a poorly understood condition, while the general medical consensus is that it is a form of delusional parasitosis in which individuals have sores they believe contain fibers. In fact, Morgellons disease may represent a culture-bound syndrome, i.e., a combination of psychiatric and somatic symptoms that are considered to be a recognizable disease within a specific society or culture. We present a case of Morgellons-like disease of the scalp and discuss its relationship to psychopathology and specific features of the scalp microenvironment. The propositus suffered from an obsessive-compulsive disorder with a delusional overlay or rather belief system. Lesions were successfully treated with lesional botulinum toxin injections. The particular features of the hair and scalp with a microenvironment of microbes, parasites, and pollutants may contribute to the itching phenomenon and produce some debris that may be misinterpreted in its origins and pathogenicity. This case presentation exemplifies that the presence of multicolored filaments is neither specific nor of any diagnostic value. Botulinum toxin proved effective by virtue of its interference with neuropeptide substance P and acetylcholine as key players in the interaction between emotional shifts and bodily sensations, specifically of the hair and scalp.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 2","pages":"133-136"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12646519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145633679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction: Acquired progressive kinking of the hair (APKH) is a rare condition in which the hair of the scalp changes in appearance. This disorder has been described infrequently over the years, so it is believed that it is being diagnosed late by physicians. We present a case of a patient with APKH.
Case: A 13-year-old woman consulted for 8 months of evolution of changes on the appearance of her hair, being darker, thicker, and more brittle than usual. The physical examination reveals the presence of thick short hair and isolated long dark hair in the coronal area. Trichoscopy showed periodic reductions on the diameter of the hair shaft and no areas of alopecia suggestive of APKH.
Discussion: APKH is an extremely rare condition in which hair of the scalp changes in appearance. It is very important to know the physical changes produced on the hair to avoid misdiagnosis. We report the case to make this pathology more widely known among professionals and encourage the reporting of this unusual disorder.
{"title":"Acquired Progressive Kinking of Hair in a 13-year-old Adolescent.","authors":"Dominga Peirano Deck, Miquela Martínez Magallón, Marianne Kolbach Rengifo","doi":"10.4103/ijt.ijt_128_23","DOIUrl":"10.4103/ijt.ijt_128_23","url":null,"abstract":"<p><strong>Introduction: </strong>Acquired progressive kinking of the hair (APKH) is a rare condition in which the hair of the scalp changes in appearance. This disorder has been described infrequently over the years, so it is believed that it is being diagnosed late by physicians. We present a case of a patient with APKH.</p><p><strong>Case: </strong>A 13-year-old woman consulted for 8 months of evolution of changes on the appearance of her hair, being darker, thicker, and more brittle than usual. The physical examination reveals the presence of thick short hair and isolated long dark hair in the coronal area. Trichoscopy showed periodic reductions on the diameter of the hair shaft and no areas of alopecia suggestive of APKH.</p><p><strong>Discussion: </strong>APKH is an extremely rare condition in which hair of the scalp changes in appearance. It is very important to know the physical changes produced on the hair to avoid misdiagnosis. We report the case to make this pathology more widely known among professionals and encourage the reporting of this unusual disorder.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 1","pages":"64-65"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-06-23DOI: 10.4103/ijt.ijt_95_23
Shrishti Singh, Aayush Gupta, Rohan Manoj
{"title":"Body Focused Repetitive Behavior at an Unusual Site and in an Unusual Pattern - Symmetrical Trichotillomania.","authors":"Shrishti Singh, Aayush Gupta, Rohan Manoj","doi":"10.4103/ijt.ijt_95_23","DOIUrl":"10.4103/ijt.ijt_95_23","url":null,"abstract":"","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 1","pages":"97-98"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12252019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-06-23DOI: 10.4103/ijt.ijt_104_23
Tarang Goyal, Vineet Relhan
With the introduction of Trichoscopy as a rapid, non-invasive diagnostic tool the need for histopathological evaluation has been reduced except for a few indications. There are a constellation of findings seen in alopecia areata which differ with types, severity and nature of the disease. We have tried to develop an algorithm towards the evolution of signs seen in this disease which may help the clinicians as well as researchers in establishing the diagnosis, disease severity, progression and monitoring the therapy response. Also, the trichoscopic progression of these findings as per the lesion and its severity is explained with an algorithmic approach. Few variants like Alopecia areata incognita which are still a matter of debate have also been included as per the trichoscopic evaluation.
{"title":"Trichoscopic Evolution of Alopecia Areata: An Algorithmic Approach.","authors":"Tarang Goyal, Vineet Relhan","doi":"10.4103/ijt.ijt_104_23","DOIUrl":"10.4103/ijt.ijt_104_23","url":null,"abstract":"<p><p>With the introduction of Trichoscopy as a rapid, non-invasive diagnostic tool the need for histopathological evaluation has been reduced except for a few indications. There are a constellation of findings seen in alopecia areata which differ with types, severity and nature of the disease. We have tried to develop an algorithm towards the evolution of signs seen in this disease which may help the clinicians as well as researchers in establishing the diagnosis, disease severity, progression and monitoring the therapy response. Also, the trichoscopic progression of these findings as per the lesion and its severity is explained with an algorithmic approach. Few variants like Alopecia areata incognita which are still a matter of debate have also been included as per the trichoscopic evaluation.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 1","pages":"84-89"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Atrichia congenita with papular lesions (APL) is a rare autosomal recessive form of alopecia with multiple keratin cysts. A 12-year-old boy with generalized alopecia who was unsuccessfully treated with multiple topical and systemic medications was brought to our department. Thorough history, examination and investigations confirmed the diagnosis of APL as the patient fulfilled the proposed criteria required to diagnose the condition. He also had a distinct previously observed dermoscopic clue "Cluster of Stars" appearance. The present case is reported to familiarize the clinician about this rare entity which not only helps in making proper diagnosis but also avoid unnecessary treatment as it mimics many similar conditions such as alopecia universalis, Vitamin D dependent rickets, and ectodermal dysplasia.
{"title":"Atrichia Congenita with Papular Lesions: A Report of Rare Case Showing \"Cluster of Stars' Appearance on Dermoscopy\".","authors":"Hayyal Shobha Sarojadevi, Veena Ullas Nair, Chandramohan Kudligi, Meghana Patil, Jayashree Basavaraju, Navya Kalappurakkal Gopinathan","doi":"10.4103/ijt.ijt_36_22","DOIUrl":"10.4103/ijt.ijt_36_22","url":null,"abstract":"<p><p>Atrichia congenita with papular lesions (APL) is a rare autosomal recessive form of alopecia with multiple keratin cysts. A 12-year-old boy with generalized alopecia who was unsuccessfully treated with multiple topical and systemic medications was brought to our department. Thorough history, examination and investigations confirmed the diagnosis of APL as the patient fulfilled the proposed criteria required to diagnose the condition. He also had a distinct previously observed dermoscopic clue \"Cluster of Stars\" appearance. The present case is reported to familiarize the clinician about this rare entity which not only helps in making proper diagnosis but also avoid unnecessary treatment as it mimics many similar conditions such as alopecia universalis, Vitamin D dependent rickets, and ectodermal dysplasia.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 1","pages":"80-83"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12252010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction: The "Gabrin sign" has been named after Dr Frank Gabrin, who was the first American physician to succumb to the novel coronavirus disease 2019 (COVID-19). The physician also suffered from androgenetic alopecia (AGA), thence came the eponymous sign. It has been widely postulated that the androgen pathway is a contributing factor in COVID-19 disease severity.
Aims and objectives: This case-control study was aimed at assessing the prevalence of AGA in patients admitted to the intensive care unit due to severe COVID-19 from three tertiary care centers in Rajasthan.
Materials and methods: During the overwhelming surge of cases between March 2021 and August 2021, the investigators randomly examined patients for the presence of AGA. AGA severity was assessed by the Hamilton-Norwood Scale and Ludwig Scale.
Results: The study included 379 cases of AGA with confirmed COVID-19 infection admitted in COVID-19 dedicated wards and 379 age- and sex-matched controls without AGA from the same wards. The male-to-female ratio was 3.9:1. The disease severity of COVID-19 was significantly higher in cases than controls (P < 0.0001). Cases with severe AGA had a significantly higher proportion of COVID-19 severity (P < 0.0001).
Conclusions: Our study provides preliminary evidence that COVID-19 severity could be androgen-mediated. However, this hypothesis requires further validation. In addition, antiandrogen treatments such as spironolactone, degarelix, and bicalutamide could theoretically be investigated in the management or prophylaxis of COVID-19 severity.
{"title":"Evaluating the Role of the Gabrin Sign in Predicting COVID-19 Severity Among Patients with Androgenic Alopecia.","authors":"Alpana Mohta, Sumiti Pareek, Asha Nyati, Vijeta Prasad, Manoj Kumar Sharma, Bhikam Chand Ghiya","doi":"10.4103/ijt.ijt_5_23","DOIUrl":"10.4103/ijt.ijt_5_23","url":null,"abstract":"<p><strong>Introduction: </strong>The \"Gabrin sign\" has been named after Dr Frank Gabrin, who was the first American physician to succumb to the novel coronavirus disease 2019 (COVID-19). The physician also suffered from androgenetic alopecia (AGA), thence came the eponymous sign. It has been widely postulated that the androgen pathway is a contributing factor in COVID-19 disease severity.</p><p><strong>Aims and objectives: </strong>This case-control study was aimed at assessing the prevalence of AGA in patients admitted to the intensive care unit due to severe COVID-19 from three tertiary care centers in Rajasthan.</p><p><strong>Materials and methods: </strong>During the overwhelming surge of cases between March 2021 and August 2021, the investigators randomly examined patients for the presence of AGA. AGA severity was assessed by the Hamilton-Norwood Scale and Ludwig Scale.</p><p><strong>Results: </strong>The study included 379 cases of AGA with confirmed COVID-19 infection admitted in COVID-19 dedicated wards and 379 age- and sex-matched controls without AGA from the same wards. The male-to-female ratio was 3.9:1. The disease severity of COVID-19 was significantly higher in cases than controls (<i>P</i> < 0.0001). Cases with severe AGA had a significantly higher proportion of COVID-19 severity (<i>P</i> < 0.0001).</p><p><strong>Conclusions: </strong>Our study provides preliminary evidence that COVID-19 severity could be androgen-mediated. However, this hypothesis requires further validation. In addition, antiandrogen treatments such as spironolactone, degarelix, and bicalutamide could theoretically be investigated in the management or prophylaxis of COVID-19 severity.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 1","pages":"54-57"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-06-23DOI: 10.4103/ijt.ijt_134_22
M Niveditha, Priya Prathap, Neelakandhan Asokan
Waardenburg syndrome (WS) is an autosomal dominant genetic disease with an estimated prevalence of 1 in 20,000-40,000. An 8-year-old boy, born to nonconsanguineous parents, presented with complaints of areas of depigmentation on the forehead and right leg since birth. On examination, there was a well-defined amelanotic macule on the center of the forehead of size 5 cm × 2.5 cm with a few spots of normal pigmentation, a forelock of white hair on the frontal area of the scalp, and a well-defined amelanotic macule of size 6 cm × 4 cm with a small central area of normal pigmentation on the posterior part of the right leg. He had scoliosis of the spine in the thoracic region. The nasal root was broad with widely separated inner canthi. There was exotropia and microcornea of the right eye with a visual acuity of 6/24. Fundus examination of the right eye showed a large disc, disc coloboma, peripapillary atrophy, and pigmentary changes in the fovea. The left eye was normal. There was no hearing defect. His father and two siblings too had patchy amelanosis in a similar distribution. They probably represent a limited expression of the same disease. All of them meet the diagnostic criteria for WS. WS is rare with only <100 cases reported worldwide.
{"title":"Waardenburg Syndrome in a Family.","authors":"M Niveditha, Priya Prathap, Neelakandhan Asokan","doi":"10.4103/ijt.ijt_134_22","DOIUrl":"10.4103/ijt.ijt_134_22","url":null,"abstract":"<p><p>Waardenburg syndrome (WS) is an autosomal dominant genetic disease with an estimated prevalence of 1 in 20,000-40,000. An 8-year-old boy, born to nonconsanguineous parents, presented with complaints of areas of depigmentation on the forehead and right leg since birth. On examination, there was a well-defined amelanotic macule on the center of the forehead of size 5 cm × 2.5 cm with a few spots of normal pigmentation, a forelock of white hair on the frontal area of the scalp, and a well-defined amelanotic macule of size 6 cm × 4 cm with a small central area of normal pigmentation on the posterior part of the right leg. He had scoliosis of the spine in the thoracic region. The nasal root was broad with widely separated inner canthi. There was exotropia and microcornea of the right eye with a visual acuity of 6/24. Fundus examination of the right eye showed a large disc, disc coloboma, peripapillary atrophy, and pigmentary changes in the fovea. The left eye was normal. There was no hearing defect. His father and two siblings too had patchy amelanosis in a similar distribution. They probably represent a limited expression of the same disease. All of them meet the diagnostic criteria for WS. WS is rare with only <100 cases reported worldwide.</p>","PeriodicalId":14417,"journal":{"name":"International Journal of Trichology","volume":"17 1","pages":"73-76"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}