May 2025 in “International Journal of Trichology” This study highlights two cases of Mudichood dermatosis in Pune, Maharashtra, suggesting the condition may occur outside its typical geographic range due to hair management practices causing friction.
7 citations
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February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
12 citations
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January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
32 citations
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May 1986 in “Archives of Dermatology” This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.
January 2024 in “The Indian Veterinary Journal” In this case study involving a two-month-old crossbred kid, severe skin conditions characterized by alopecia and pruritic lesions were linked to Malassezia yeast and bacteria, and successful treatment was observed with ketoconazole and supportive care.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
18 citations
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January 2002 in “Pediatric Dermatology” This case report describes a rare instance of cutaneous focal mucinosis in a 12-year-old Chinese girl, presented as a hypopigmented plaque on her chin.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
49 citations
,
January 2013 in “Dermatologic Therapy” This review discusses the varying neonatal presentations of Mendelian disorders of cornification (ichthyosis) based on phenotypic groups but reports no new clinical results; the authors suggest categorizing these presentations to guide diagnosis and treatment.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” This report describes a case of Rothmund-Thomson type congenital poikiloderma, noting minor skin changes, hair loss, and slightly elevated lysine and cystine in the urine.
2 citations
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October 1974 in “Archives of Dermatology” This case study describes a 27-year-old woman with alopecia mucinosa that persisted for 20 years despite multiple treatments, including steroids and antihistamines.
6 citations
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January 2015 in “Indian Dermatology Online Journal” This case report describes a unique presentation of porokeratotic eccrine ostial and dermal duct nevus with lesions on the dorsum of the hand and a focal lichenoid infiltrate, differing from typical palm and sole involvement.
7 citations
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January 2013 in “Indian dermatology online journal” This report describes a rare case of a three-day-old male with ichthyosis hystrix type of epidermal nevus, featuring specific skin and hair symptoms but no nail or skeletal abnormalities.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This review discusses the skin and systemic conditions associated with Down syndrome and reports no new clinical results, emphasizing the need for awareness of these manifestations in diagnosis.
January 2022 in “Indian journal of paediatric dermatology” This case report details an unusual instance of multiple eruptive milia in an otherwise healthy 3-month-old baby, characterized by widespread distribution and believed to be idiopathic due to the absence of associated genodermatoses.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
October 2019 in “European Journal of Dermatology” This review discusses the diagnosis and treatment of pityriasis rubra pilaris and reports no new clinical results.
January 2026 in “Indian Journal of Paediatric Dermatology” In this case report, a 14-year-old boy was diagnosed with nevus comedonicus, a condition characterized by dilated follicular openings filled with keratin, presenting in a Blaschkoid pattern; treatment with topical tretinoin 0.1% cream was recommended.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
2 citations
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March 2023 in “Frontiers in Medicine” This case study presented a 16-year-old male with dermatosis neglecta and obsessive-compulsive disorder, where his skin condition improved after proper cleansing and psychiatric treatment, suggesting that DN may also indicate underlying psychiatric issues.
3 citations
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July 2004 in “SKINmed/Skinmed” This case study describes a 4-year-old girl's diagnosis of erythrokeratodermia variabilis despite various ineffective treatments, highlighting a rare skin condition with persistent symptoms.
7 citations
,
July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
4 citations
,
April 2019 in “JAAD Case Reports” This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.
February 2010 in “Journal of the American Academy of Dermatology” This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.
This case report describes a pediatric instance of follicular atopic dermatitis in a dark-skinned patient, highlighting its unique clinical and dermoscopic features, such as purplish to brownish scaly papules and specific dermoscopic patterns, which are crucial for enhancing diagnostic accuracy in similar cases.
1 citations
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October 2018 in “Madridge journal of dermatology & research” This resource outlines the focus areas of the Madridge Journal of Dermatology & Research and reports no new clinical findings.
14 citations
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June 1989 in “Journal of dermatology” This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.
1 citations
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January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
March 2003 in “中華皮膚科醫學雜誌” This report describes a patient with trichothiodystrophy exhibiting both specific hair abnormalities and developmental delay, contributing to the understanding of this rare disorder's clinical presentation.