Search our Database of Scientific Publications and Authors

I’m looking for a

    29 results match your criteria Dermatopathia Pigmentosa Reticularis

    1 OF 1

    Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review.
    Indian J Dermatol 2016 Jul-Aug;61(4):468
    Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
    Dermatopathia pigmentosa reticularis (DPR) is a very rare autosomal dominant ectodermal dysplasia caused by mutations in keratin 14 and characterized by the triad of generalized reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. We report two Saudi brothers with DPR that had normal hair shafts, as assessed by scanning and transmission electron microscopy. Read More

    Naegeli-Franceschetti-Jadassohn syndrome: A rare case.
    Indian Dermatol Online J 2015 Nov-Dec;6(6):403-6
    Department of Dermatology, BJ Medical College, Civil Hospital, Ahmedabad, Gujarat, India.
    Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes. Read More

    Dermatopathia Pigmentosa Reticularis with Salzmann's nodular degeneration of cornea: A rare association.
    Nepal J Ophthalmol 2015 Jan-Jun;7(1):79-81
    Gurunanak Eye Center, Maulana Azad Medical College, New Delhi.
    Background: Dermatopathia pigmentosa reticularis (DPR) is a very rare autosomal dominant disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia and onychodystrophy.

    Objective: To describe the occurrence of Salzmann's nodular degeneration of cornea with moderate dry eye in a patient with Dermatopathia pigmentosa reticularis.

    Case: We present an 11 year old young Indian girl with DPR who had Salzmann's nodular degeneration of cornea with moderate dry eye. Read More

    Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder.
    Indian Dermatol Online J 2013 Jan;4(1):40-2
    Department of Dermatology, Venereology and Leprosy, I.G.M.C, Shimla, India.
    Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 21 year old woman who had generalized reticulate pigmentation, diffuse noncicatricial alopecia and onychodystrophy of finger and toe nails. Along with this triad she had palmoplantar keratoderma and poorly developed dermatoglyphics. Read More

    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 2011 May-Jun;54(3):231-5. Epub 2011 Jan 18.
    Department of Pediatrics, University of Torino, Torino, Italy.
    Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, palmoplantar hyperkeratosis and other ectodermal symptoms. The disorders differ in their primary pigmentation localization and hair and dental manifestations. They resemble Dyskeratosis Congenita and Poikiloderma Clericuzio type in many of the skin changes, but especially the presence of leukoplakia and bone marrow disfunctioning in the first, and of telangiectasias, generalized hyperkeratosis of palms and soles, and nail pachyonychia in the latter are distinguishing features. Read More

    A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation.
    Clin Exp Dermatol 2009 Apr 24;34(3):340-3. Epub 2008 Nov 24.
    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. Read More

    Dermatopathia pigmentosa reticularis.
    Pediatr Dermatol 2007 Sep-Oct;24(5):566-70
    Department of Dermatology, Venereology and Leprology, G.G.S Medical College and Hospital, Faridkot, Punjab, India.
    Dermatopathia pigmentosa reticularis is a rare inherited pigmentary disorder of the skin characterized by generalized reticulate hyperpigmentation, nonscarring alopecia and onychodystrophy. The reticulate pigmentation occurs at birth or during early childhood. We hereby report a 12-year-old Indian patient with this disorder. Read More

    Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
    Am J Hum Genet 2006 Oct 25;79(4):724-30. Epub 2006 Aug 25.
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion-Israel Institute of Technology, Haifa, Israel.
    Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin. To decipher the molecular basis of these disorders, we studied one family with DPR and four families with NFJS. We initially reassessed linkage of NFJS/DPR to a previously established locus on 17q11. Read More

    Genomic imprinting and dermatological disease.
    Clin Exp Dermatol 2006 Sep;31(5):681-8
    Department of Dermatology, Norfolk and Norwich University Hospital, Norwich, UK.
    Imprinting is the process whereby genetic alleles responsible for a phenotype are derived from one parent only. It is an epigenetic phenomenon resulting from DNA methylation or modification of protruding histones. When imprinted genes are disrupted, syndromes with characteristic patterns of inheritance and multisystem phenotype occur. Read More

    Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
    J Invest Dermatol 2002 Sep;119(3):692-8
    Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
    Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. We studied a large Swiss family with Naegeli-Franceschetti-Jadassohn syndrome originally described by Naegeli in 1927 and assessed linkage to chromosome 17q, which was proposed to harbor the Naegeli-Franceschetti-Jadassohn syndrome gene. Read More

    Reticulate postinflammatory hyperpigmentation with band-like mucin deposition.
    Int J Dermatol 1998 Nov;37(11):829-32
    Department of Dermatology, University of Palermo, Policlinico P. Giaccone, Italy.
    Background: Mucinoses of the skin are a group of disorders sharing accumulation of mucin in the skin or hair follicles. Postinflammatory hyperpigmentation, with pigmentary incontinence, is due to loss of melanin from epidermal basal cells and its accumulation in dermal macrophages.

    Methods: We describe clinicopathologic features of two patients presenting with the association of pigmentary incontinence with an unusual diffuse, band-like dermal deposition of mucin, clinically presenting with reticular pigmented macular lesions. Read More

    Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders.
    Dermatology 1998 ;197(3):281-90
    Department of Dermatology, University of Basel, and Abteilung für Dermatologie, Kantonsspital Aarau, Switzerland.
    Reticulate pigmentation of the neck is a common finding in numerous genodermatoses and acquired diseases. As the neck is readily accessible to medical inspection, it may serve as a diagnostic window for various dermatoses. Several entities out of the spectrum of ectodermal dysplasia present with reticulate or mottled pigmentation on the upper trunk and neck. Read More

    A case of dermatopathia pigmentosa reticularis.
    J Dermatol 1997 Apr;24(4):266-9
    Department of Dermatology, College of Medicine, Soonchunhyang University, Seoul, Korea.
    Dermatopathia pigmentosa reticularis (DPR) is a very rare disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Many other dermatologic findings have been associated with this triad, including adermatoglyphia, hypohidrosis or hyperhidrosis, palmoplantar hyperkeratosis, and nonscarring blisters on the dorsa of the hands and feet. The mode of inheritance is unclear but may be autosomally dominant. Read More

    Reticulate hyperpigmentation.
    Semin Cutan Med Surg 1997 Mar;16(1):72-80
    Department of Pediatrics, Children's Regional Hospital, Cooper and Hospital/University Medical Center, Camden, NJ 08103, USA.
    Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. Dyskeratosis congenita (DKC) is the prototype of these. In addition to reticulate hyperpigmentation, mucosal leukoplakia, bone marrow dysfunction, cytogenetic instability, and a predisposition to malignancy are characteristic of DKC. Read More

    Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance.
    J Am Acad Dermatol 1992 Feb;26(2 Pt 2):298-301
    Dermatology Service, Walter Reed Army Medical Center, Washington, D.C.
    Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. In addition to this triad, other variable features of dermatopathia pigmentosa reticularis have been described, including adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Only 10 cases have been described in the world literature to date, and no clear inheritance pattern has been demonstrated. Read More

    Dermatopathia pigmentosa reticularis.
    Arch Dermatol 1990 Jul;126(7):935-9
    Department of Dermatology, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark 07103.
    Dermatopathia pigmentosa reticularis is a rare disorder that presents as reticulate pigmentation distributed widely all over the cutaneous surface. Only nine patients with this disease have been described previously. Our patient had no fingernail and toenail prints, a striking finding also noted in some, but not all, of the other nine patients. Read More

    Primary disorders of hyperpigmentation.
    J Am Acad Dermatol 1984 Jan;10(1):1-16
    A classification of primary hyperpigmentation conditions is presented. The emphasis is on clinical aspects and an attempt has been made to show, when possible, a spectrum beginning with localized involvement and progressing to the more extensive involvement. Most primary hyperpigmentation conditions and syndromes are inherited by autosomal dominant genetics; notable exceptions include incontinentia pigmenti, classic dyskeratosis congenita, and xeroderma pigmentosum. Read More

    Congenital poikiloderma with traumatic bulla formation, anhidrosisi, and keratoderma.
    Acta Derm Venereol 1979 ;59(4):347-51
    A 14-year-old boy with congenital poikiloderma had anhidrosis, palmoplantar-pitted keratoderma, traumatic bulla formation, and defective dentition, but no abnormalities of the hair, nails, or eyes. This patient was similar in some respects to others reported as having dermatopathia pigmentosa reticularis, the Franceschetti-Jadassohn syndrome, the Mendes da Costa syndrome, and acrokeratotic poikiloderma. Read More

    1 OF 1