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735 results
  • Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis. [Letter]
    J Clin Immunol. 2020 Jul 04 [Online ahead of print]Akdogan N, Kindis E, … Ersoy-Evans S
  • Poikiloderma with neutropenia (PN), Clericuzio-type is a rare autosomal recessively transmitted genodermatosis caused by biallelic mutations in the USB1 gene and is characterized by early-onset poikiloderma and chronic neutropenia. Nail dystrophy, palmoplantar hyperkeratosis, hypogonadotropic hypogonadism, and recurrent infections can be associated with the disease. Herein, we present a 27-year-o…
  • GeneReviews®: Rothmund-Thomson Syndrome [BOOK]
    . University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AWang LL, Plon SEBOOK
  • Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops b…
  • Complete remission of sclerodermatous cutaneous Graft-versus-host disease after low dose interleukine-2 treatment. [Letter]
    J Eur Acad Dermatol Venereol. 2020 Apr 24 [Online ahead of print]Weiss M, de Masson A, … Bouaziz JD
  • Graft-versus-host disease (GVHD) is an immunological reaction, frequently complicating allogeneic hemopoietic stem cell transplantation, that can involve many organs with a wide range of clinical presentations. GVHD is classically divided into acute and chronic GVHD (cGVHD) according to the current cGVHD National Institutes of Health (NIH) consensus criteria (1). Skin cGVHD involves a wide range …
  • [Clinical heterogeneity of poikilodermatous mycosis fungoides: A retrospective study of 12 cases]. [Journal Article]
    Ann Dermatol Venereol. 2020 Jun - Jul; 147(6-7):418-428.Rohmer E, Mitcov M, … Lenormand C
  • CONCLUSIONS: Our study suggests that poikilodermatous MF covers a heterogeneous clinical spectrum comprising on one hand a presentation of delimited lesions sharing classical MF risk of progression, and on the other, an entity similar to parakeratosis variegata, an entity overlooked in the French nomenclature, which was particularly benign in our small series, raising the question of its affiliation to the MF group. This question merits further investigation in a larger-scale study.
  • Poikilodermatous Mycosis Fungoides: Comparative Study of Clinical, Histopathological and Immunohistochemical Features. [Journal Article]
    Dermatology. 2020; 236(2):117-122.Vasconcelos Berg R, Valente NYS, … Sanches JA
  • CONCLUSIONS: This is the first article to categorize the different forms of pMF and correlate them with clinical and laboratory findings. The dermatological presentation differs among the groups. There was a high frequency of PLC-like lesions within the GpMF group and of hypopigmented lesions in mix-pMF. The histological and immunohistochemical findings were similar to those previously reported. Aggressive treatments are not recommended due to the good prognosis of all pMF forms. The low positivity of T-cell clonality in the GpMF group should be investigated.
  • Skin abnormalities in the Finnish National Gallery. [Journal Article]
    J Cosmet Dermatol. 2020 Apr; 19(4):960-963.Kluger N
  • The search for clinical signs suggestive of diseases and medical analysis in works of art and portraits is also known as iconodiagnosis. It raises discussions about underlying diseases and about whether the artist intended to represent them. We assessed the frequency of cutaneous signs in paintings on display in the permanent collections of the Ateneum and Sinebrychoff Art Museums, Finnish Nation…
  • Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome. [Case Reports]
    J Pediatr Genet. 2019 Sep; 8(3):163-167.Yadav S, Thakur S, … Gupta N
  • Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in RECQL4 and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel variants in RECQL4 gene . Case-1 was evaluated for poor growth and recurrent fractures and skin lesions. Case-2 presented at 4 months with failure to thrive and r…
  • ATP-dependent helicase activity is dispensable for the physiological functions of Recql4. [Journal Article]
    PLoS Genet. 2019 07; 15(7):e1008266.Castillo-Tandazo W, Smeets MF, … Walkley CR
  • Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by skin rash (poikiloderma), skeletal dysplasia, small stature, juvenile cataracts, sparse or absent hair, and predisposition to specific malignancies such as osteosarcoma and hematological neoplasms. RTS is caused by germ-line mutations in RECQL4, a RecQ helicase family member. In vitro studies have identified f…
  • Skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study. [Journal Article]
    Ann Dermatol Venereol. 2019 Mar; 146(3):192-203.Ventéjou S, Bagny K, … Osdoit S
  • CONCLUSIONS: Our cohort showed a high prevalence of skin cancer in XP-C patients of phototype V and VI exposed to UV radiation in a tropical region. SCCs were the most common tumours. The prevalence of melanoma was high, with major risk compared to controls of the same skin phototype. In addition, we found a high prevalence of sarcomas (5 patients). Initial cancers occurred early (5.4 years) compared to data from the literature, and SCCs and sarcomas occurred significantly sooner than melanomas and BCCs.
  • Kindler syndrome: a rare case report from Greece. [Case Reports]
    Oxf Med Case Reports. 2019 Feb; 2019(2):omz003.Gkaitatzi M, Kalloniati E, … Georgiou S
  • Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis.
  • Dyskeratosis congenita: presentation of cutaneous triad in a sporadic case. [Case Reports]
    BMJ Case Rep. 2018 Nov 28; 11(1)Sharma RK, Gupta M, … Gupta A
  • Dyskeratosis congenita (DKC) also known as Zinsser-Cole-Engman syndrome is a progressive genetic disease with a classical presentation characterised by a triad of reticulate pigmentation of skin, nail dystrophy and leukoplakia. It may be a multisystem disease with the involvement of haematological, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal system. We report…
  • StatPearls: Poikiloderma Congenitale [BOOK]
    . StatPearls Publishing: Treasure Island (FL) Hafsi Wissem W Faculty of Medicine of Tunis, Tunisia Badri Talel T University of Tunis El Manar BOOK
  • Congenital poikiloderma, also known as Rothmund-Thomson syndrome (RTS), is a rare genodermatosis of autosomal recessive (AR) inheritance characterized by a typical erythema facial (poikiloderma) of early onset, associated with different clinical features including short stature, sparse scalp hair, absent or sparse eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, juvenile cat…
  • Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling. [Journal Article]
    J Invest Dermatol. 2019 02; 139(2):369-379.Michael M, Begum R, … Parsons M
  • Kindler syndrome is an autosomal recessive genodermatosis that results from mutations in the FERMT1 gene encoding t kindlin-1. Kindlin-1 localizes to focal adhesion and is known to contribute to the activation of integrin receptors. Most cases of Kindler syndrome show a reduction or complete absence of kindlin-1 in keratinocytes, resulting in defective integrin activation, cell adhesion, and migr…
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