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Dermatopathology, Volume 8, Issue 1

2021 March - 11 articles

Cover Story: Neurofibromatosis type I (NF1) or von Recklinghausen’s disease is a very common genetic disease caused by the mutation of a tumor suppressor gene. Its principal clinical manifestation is benign cutaneous and oral neurofibromas that rarely undergo malignant transformation into a malignant peripheral nerve sheath tumor. Other dermatological clinical signs as well as ocular and skeletal abnormalities are also part of its diagnosis criteria. As NF1 has almost 100% penetrance, with a variable phenotypic expression, we believe it necessary for clinicians to be acquainted with oral alterations and include regular oral cavity examination during follow-up visits to those patients. In this study, we present a literature review of the oral and cutaneous manifestations of NF1 and describe a clinical case of an NF1 patient who presents cutaneous and oral lesions. View this paper.
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Articles (11)

  • Article
  • Open Access
2 Citations
3,779 Views
15 Pages

Screening for Melanoma and Other Skin Cancer Shows a Higher Early Melanoma Incidence: Social Educational Program “Life Fear-Free”

  • Lev Demidov,
  • Igor Samoylenko,
  • Nina Vand,
  • Igor Utyashev,
  • Irina Shubina and
  • Igor Sinelnikov

Background: The screening program Life Fear-Free (LFF) aimed at early diagnosis of cutaneous melanoma (CM) was introduced in Samara, Chelyabinsk, Yekaterinburg, and Krasnodar (Russia) in 2019. Objectives: To analyze the impact of the program on early...

  • Case Report
  • Open Access
7 Citations
4,673 Views
5 Pages

Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome

  • Trinidad Montero-Vilchez,
  • Alexandra Remon-Love,
  • Jesús Tercedor-Sánchez and
  • Salvador Arias-Santiago

Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem d...

  • Case Report
  • Open Access
10 Citations
4,920 Views
4 Pages

Petrified Ears: A Clue for Adrenal Insufficiency

  • Sebastiano Recalcati and
  • Fabrizio Fantini

Petrified ears is an uncommon clinical entity. It describes auricular cartilage hardening, due usually to ectopic calcification or, less commonly, ossification. The most common causes are frostbite and mechanical trauma. However, endocrinopathies hav...

  • Case Report
  • Open Access
6 Citations
3,830 Views
5 Pages

Advanced Cutaneous Leiomyosarcoma of the Forearm

  • Gerardo Cazzato,
  • Maria Chiara Sergi,
  • Sara Sablone,
  • Anna Colagrande,
  • Teresa Lettini,
  • Francesco Fanelli,
  • Umberto Orsini and
  • Giuseppe Ingravallo

Leiomyosarcoma is a malignant smooth muscle neoplasm, which is traditionally divided into superficial and deep tumors. Superficial leiomyosarcomas are quite rare entities, accounting for approximately 7% of soft tissue neoplasms and 0.04% of all canc...

  • Case Report
  • Open Access
14 Citations
4,508 Views
3 Pages

Anti-PD-1-Induced Hidradenitis Suppurativa

  • Alexia Maillard,
  • Damien Pastor and
  • Rastine Merat

Mucocutaneous adverse events are commonly observed under immune checkpoint inhibitors (ICIs) therapy. Here, we report the case of a 43-year-old male patient with a stage IIIC melanoma disease who developed hidradenitis suppurativa (HS) three months a...

  • Case Report
  • Open Access
6 Citations
3,424 Views
4 Pages

Bullous pemphigoid (BP) is an autoimmune bullous disease and is a rare condition in childhood. Acquired tense acral bullae and fixed urticarial annular lesions on the trunk are diagnostic clues of infantile BP. Diagnosis is supported by immunosorbent...

  • Case Report
  • Open Access
7 Citations
4,574 Views
4 Pages

Primary Dermal Melanoma: A Rare Clinicopathological Variant Mimicking Metastatic Melanoma

  • Oriana Simonetti,
  • Elisa Molinelli,
  • Valerio Brisigotti,
  • Donatella Brancorsini,
  • Davide Talevi and
  • Annamaria Offidani

Primary dermal melanoma (PDM) is a rare distinct variant of cutaneous melanoma, predominantly occurring on the extremities of young or middle-aged adults. In comparison to conventional melanoma, PDM is characterized by unexpectedly prolonged survival...

  • Case Report
  • Open Access
6 Citations
4,296 Views
4 Pages

Atypical Fibroxanthoma-Like Amelanotic Melanoma: A Diagnostic Challenge

  • Gerardo Cazzato,
  • Anna Colagrande,
  • Antonella Cimmino,
  • Giovanni Liguori,
  • Teresa Lettini,
  • Gabriella Serio,
  • Giuseppe Ingravallo and
  • Andrea Marzullo

Atypical fibroxanthoma-like amelanotic melanoma is a very rare variant of melanoma that can, if not correctly recognized and framed, lead to diagnostic errors that can potentially cause problems of extreme relevance to patients. Correct knowledge of...

  • Case Report
  • Open Access
10 Citations
9,735 Views
8 Pages

Neurofibromatosis type 1 (NF1) is a common genetic disease whose dermatological lesions are at the forefront of its development. Cutaneous manifestations include café au lait spots, intertriginous freckling, and neurofibromas which appear duri...

  • Case Report
  • Open Access
13 Citations
4,840 Views
9 Pages

Low-Grade Myofibroblastic Sarcoma of the Oral Cavity: A Report of Three Cases Illustrating an Emerging Disease in Children

  • Primali Rukmal Jayasooriya,
  • Chamara Athukorala,
  • Manjula Attygalla,
  • Balapuwaduge Ranjit Rigobert Nihal Mendis and
  • Tommaso Lombardi

Low-grade myofibroblastic sarcoma (LGMS) is a mesenchymal tumor of myofibroblasts that occurs more frequently in adults. A series of three cases is presented to illustrate that LGMS may also occur within the oral cavity in children and adolescents. T...

  • Case Report
  • Open Access
5 Citations
12,226 Views
7 Pages

Background: A plethora of diseases manifest as acquired genital lymphangiectasias which clinically manifest as superficial vesicles. They range from infections such as tuberculosis to connective tissue diseases such as scleroderma and even malignancy...

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Dermatopathology - ISSN 2296-3529