40 results match your criteria: "Dermatopathia Pigmentosa Reticularis"
A case of dermatopathia pigmentosa reticularis masquerading as dyskeratosis congenita: the importance of nailing the correct diagnosis.
Clin Exp Dermatol
August 2024
Department of Dermatology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
Beard Alopecia: An Updated and Comprehensive Review of Etiologies, Presentation and Treatment.
J Clin Med
July 2023
Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Article Synopsis
- Facial hair plays a significant role in men's social and psychological identity, making beard health important.
- This review outlines various causes of beard alopecia, including more common conditions like alopecia areata and pseudofolliculitis barbae, as well as less common ones like dermatopathia pigmentosa reticularis.
- The document serves as a valuable resource for clinicians dealing with patients experiencing beard hair loss.
Inherited Reticulate Pigmentary Disorders.
Genes (Basel)
June 2023
Department of Dermatology, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
Article Synopsis
- Reticulate pigmentary disorders (RPDs) are skin conditions that can be either inherited or acquired, featuring areas of hyperpigmentation or hypopigmentation.
- There are several inherited types of RPDs, with varying pigmentation patterns and additional symptoms, including DSH, DUH, and RAK primarily affecting East Asian populations, while DDD is more common in Caucasians.
- The article examines the different clinical, histological, and genetic characteristics of these inherited RPDs.
Dermoscopy of Dermatopathia Pigmentosa Reticularis.
Indian J Dermatol
January 2022
Department of Dermatology, Venereology and Leprosy, Lady Hardinge Medical College, New Delhi, India E-mail:
A rare association of Salzmann's nodular degeneration of cornea and dermatopathia pigmentosa reticularis.
J Fr Ophtalmol
December 2022
Department of Ophthalmology, Habib Bourguiba Hospital, Sfax, Tunisia.
Dermatopathia Pigmentosa Reticularis with Addisonian Pigmentation: Atypical Presentation of a Rare Case.
Indian Dermatol Online J
May 2022
Department of Dermatology, Venereology and Leprosy, Lady Hardinge Medical College, New Delhi, India.
Article Synopsis
- Dermatopathia pigmentosa reticularis is a rare genetic skin condition characterized by mottled skin pigmentation.
- A case study is presented involving a 15-year-old boy who exhibits both reticulate and diffuse pigmentation patterns.
- The boy also shows adermatoglyphia, which is the absence of fingerprint patterns.
Clericuzio-type poikiloderma with neutropenia in a patient from India.
Am J Med Genet A
January 2021
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Article Synopsis
- A 9-year-old boy was evaluated for skin issues, showing unusual pigmentation, hyperkeratosis on palms and soles, and nodules that suggested calcification on his elbows.
- His blood tests indicated neutropenia, which was confirmed to be non-cyclical, and genetic testing identified a mutation in the USB1 gene, leading to a diagnosis of poikiloderma with neutropenia, Clericuzio type (PNC).
- The case also noted new findings like obliterated dermatoglyphics and mucin deposition, which had not been previously reported in PNC.
Dermatopathia pigmentosa reticularis with beard alopecia: first report from Syria.
Oxf Med Case Reports
September 2020
Pathology Department, Tishreen University Faculity of Medicine, Lattakia, Syria.
Article Synopsis
- Dermatopathia pigmentosa reticularis (DPR) is a rare skin disorder marked by a triad of symptoms: reticulate hyperpigmentation, non-scarring hair loss (alopecia), and nail abnormalities (onychodystrophy).
- The first reported case from Syria showcases the classic features of DPR, adding unique symptoms like excessive sweating (hyperhidrosis) and lack of fingerprints (adermatoglyphia).
- This case is unique due to the location of the alopecia on the beard, a first-time report, and distinctive histopathological findings from a biopsy.
Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy.
JAAD Case Rep
April 2019
Division of Dermatology, Al-Sadr Teaching Hospital, Basra, Iraq.
Dermatopathia Pigmentosa Reticularis.
Indian J Dermatol
January 2019
Department of Dermatology, Medical College, Kolkata, West Bengal, India.
Article Synopsis
- - Dermatopathia pigmentosa reticularis is a rare skin condition classified as ectodermal dysplasia, characterized by three main features: reticulate hyperpigmentation, nonscarring hair loss (alopecia), and nail abnormalities (dystrophy).
- - A case study is presented involving a 23-year-old male who exhibited this characteristic triad along with two additional symptoms: anhidrosis (lack of sweating) and palmoplantar keratoderma (thickened skin on palms and soles).
- - This case highlights the unique symptoms and clinical presentation of dermatopathia pigmentosa reticularis, contributing to the understanding of this rare condition.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
Br J Dermatol
October 2019
Department of Biomedicine, University Hospital Basel and University of Basel, Switzerland.
Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review.
Indian J Dermatol
August 2016
Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Article Synopsis
- - Dermatopathia pigmentosa reticularis (DPR) is a rare genetic skin disorder caused by mutations in keratin 14, showing an autosomal dominant inheritance pattern.
- - The disorder is characterized by three main features: widespread reticulate hyperpigmentation, hair loss without scarring (nonscarring alopecia), and nail abnormalities (onychodystrophy).
- - A case report discusses two Saudi brothers with DPR who presented with normal hair shafts, as determined by advanced microscopy techniques.
Naegeli-Franceschetti-Jadassohn syndrome: A rare case.
Indian Dermatol Online J
January 2016
Department of Dermatology, BJ Medical College, Civil Hospital, Ahmedabad, Gujarat, India.
Article Synopsis
- Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare genetic condition that is inherited in an autosomal dominant manner and is associated with ectodermal dysplasia due to mutations in the KRT14 gene.
- A case study is presented involving a 27-year-old male diagnosed with NFJS, who exhibited various symptoms including reticulate hyperpigmentation on the skin, dental abnormalities, and the absence of dermatoglyphics (fingerprint patterns).
- Other clinical features noted in this patient included hypohidrosis (reduced ability to sweat) and changes in hair texture or growth.
Dermatopathia Pigmentosa Reticularis with Salzmann's nodular degeneration of cornea: A rare association.
Nepal J Ophthalmol
September 2016
Gurunanak Eye Center, Maulana Azad Medical College, New Delhi.
Article Synopsis
- Dermatopathia pigmentosa reticularis (DPR) is a rare genetic disorder characterized by reticulate hyperpigmentation, hair loss, and nail abnormalities.
- An 11-year-old Indian girl with DPR also developed Salzmann's nodular degeneration of the cornea and moderate dry eye, requiring symptomatic treatment and sun exposure precautions.
- The case emphasizes the importance of recognizing DPR in patients with such symptoms and suggests a multidisciplinary approach for effective management.
[Dermatopathia pigmentosa reticularis].
Ann Dermatol Venereol
April 2014
Service de dermatologie, faculté de médecine, CHU Hassan II, BP 1835, Atlass, Fès, Maroc.
Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder.
Indian Dermatol Online J
January 2013
Department of Dermatology, Venereology and Leprosy, I.G.M.C, Shimla, India.
Article Synopsis
- - Dermatopathia pigmentosa reticularis is a rare skin disorder characterized by a combination of reticulate hyperpigmentation, noncicatricial alopecia (hair loss), and onychodystrophy (nail abnormalities).
- - A case study highlights a 21-year-old woman who exhibited the classic symptoms: widespread reticulate pigmentation, hair loss, and abnormal finger and toe nails.
- - Additional findings in the patient included palmoplantar keratoderma (thickening of skin on palms and soles) and poorly developed skin patterns (dermatoglyphics), with no signs of issues in other organs derived from the ectoderm.
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
Eur J Med Genet
September 2011
Department of Pediatrics, University of Torino, Torino, Italy.
Article Synopsis
- Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are genetic disorders that cause skin discoloration, thickened skin on palms and soles, and other skin-related symptoms but differ in pigmentation and other traits.
- * The text discusses two patients with growth issues, developmental delays, and skin symptoms similar to these syndromes, yet they have unique traits and no mutations linked to their conditions were found.
- * Although there are similarities to Naegeli syndrome and related disorders, the patients exhibit enough differences suggesting they may represent a new, distinct condition.
A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation.
Clin Exp Dermatol
April 2009
Pigment Clinic, National Skin Centre, Singapore.
We report a patient of Malay ancestry with dermatopathia pigmentosa reticularis (DPR) resulting from a recurrent KRT14 p.R125C mutation. The patient has reticulate hyperpigmentation over his trunk and proximal limbs, together with onychodystrophy.
View Article and Find Full Text PDFDermatopathia pigmentosa reticularis.
Pediatr Dermatol
December 2007
Department of Dermatology, Venereology and Leprology, G.G.S Medical College and Hospital, Faridkot, Punjab, India.
Article Synopsis
- Dermatopathia pigmentosa reticularis is a rare genetic skin disorder that causes a distinct pattern of pigmentation, hair loss, and nail abnormalities.
- The pigmentation appears either at birth or in early childhood and is described as generalized reticulate hyperpigmentation.
- The report includes a case of a 12-year-old Indian boy diagnosed with this condition.
[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14].
Ann Dermatol Venereol
October 2007
Service de Dermatologie, Hôpital Saint Eloi, 80, avenue Augustin Fliche, 34295 Montpellier Cedex 5.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Am J Hum Genet
October 2006
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion-Israel Institute of Technology, Haifa, Israel.
Article Synopsis
- * A study on families with these conditions identified mutations in the KRT14 gene, which are linked to these syndromes, specifically affecting its nonhelical domain, distinct from mutations causing other skin disorders.
- * The findings indicate that KRT14 is crucial for developing skin features like fingerprints and sweat glands, and increased cell death (apoptosis) in skin cells may play a role in the disease's progression.
Genomic imprinting and dermatological disease.
Clin Exp Dermatol
September 2006
Department of Dermatology, Norfolk and Norwich University Hospital, Norwich, UK.
Article Synopsis
- Imprinting is an epigenetic process where certain genes are inherited from only one parent, affecting the resulting phenotype through mechanisms like DNA methylation.
- Disrupted imprinted genes can lead to specific syndromes, such as Beckwith-Wiedemann and Prader-Willi, which showcase unique inheritance patterns and physical traits.
- Additionally, imprinting may influence other conditions, potentially affecting the expression of diseases like neurofibromatosis and common ailments like eczema and psoriasis, which may follow maternal or paternal inheritance patterns.