104 results match your criteria: "Speckled Lentiginous Nevus"

Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy.

Pediatr Dermatol

September 2024

Department of Dermatology, Inherited Cardiac Diseases and Sudden Death Unit, Barcelona, Spain.

Article Synopsis
  • - Phacomatosis pigmentokeratotica (PPK) is a genetic disorder (RASopathy) marked by specific skin growths: a sebaceous nevus and a lentiginous nevus.
  • - The report details serious related health issues, such as dangerous heart arrhythmias, that can occur in PPK patients.
  • - It suggests the use of topical rapamycin as a possible treatment option for managing the sebaceous nevus in individuals with PPK.
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Article Synopsis
  • * Rarely, this type of nevus can transform into melanoma, especially in individuals with significant sun damage.
  • * The case study discusses an elderly man who developed melanoma within a nevus spilus, leading to multiple surgeries due to difficulties in accurately assessing the excision margins, which can resemble melanoma itself.
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Article Synopsis
  • Phacomatosis pigmentokeratotica (PPK) is a rare skin condition featuring both sebaceous nevi and speckled lentiginous nevi, leading to frequent biopsies that can cause pain and anxiety for patients.
  • Researchers aimed to explore the effectiveness of high-frequency ultrasound (HFUS) and optical coherence tomography (OCT) as noninvasive imaging techniques to analyze pigmented lesions in a PPK patient.
  • The study found that HFUS and OCT revealed distinctive features of the lesions, indicating they are likely benign, potentially reducing the need for invasive procedures.
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Article Synopsis
  • - Phacomatosis pigmentokeratotica (PPK) is a rare skin condition characterized by the simultaneous presence of speckled lentiginous nevus and nevus sebaceous, but its exact mechanisms are not well understood.
  • - Recent studies link PPK to genetic mutations in HRAS, KRAS, and BRAF, with a specific case report highlighting a mosaic mutation in the HRAS gene in a 4-year-old male patient.
  • - The physical examination of the child revealed nevus sebaceous on the scalp and other skin abnormalities, but no significant issues were found beyond skin lesions, showcasing the importance of genetic research in understanding PPK.
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Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.

Eur J Dermatol

February 2019

Department of Dermatology, Medical Center-University of Freiburg, Hauptstr 7, 79104 Freiburg, Germany.

Article Synopsis
  • Papular nevus spilus syndrome (PNS) was previously called "speckled lentiginous nevus syndrome" due to its association with specific peripheral nerve or muscle abnormalities on the same side of the skin lesion.
  • Recent research has added six new cases and proposed new diagnostic criteria: presence of PNS, a related neurological or skeletal issue on the same side, and no presence of a nevus sebaceus.
  • PNS syndrome is considered to be a rare, sporadic condition that is part of a broader category of mosaic RASopathies, which includes several related disorders.
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Atypical Nevi in a Patient After Toxic Epidermal Necrolysis.

Acta Dermatovenerol Croat

June 2018

Ružica Jurakić Tončić, MD, Department of Dermatovenereology, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Šalata 4, 10000 Zagreb, Croatia;

Article Synopsis
  • There is limited literature on nevi in patients with a history of toxic epidermal necrolysis (TEN) and insufficient recommendations regarding melanoma risks.
  • Eruptive melanocytic nevi (EMN) can arise in individuals with immunosuppression or independently, with unknown etiology, although immune system impairment may contribute to their development.
  • A case study is presented involving a 17-year-old male patient who developed atypical nevi two years after experiencing severe TEN, with some nevi characterized as dysplastic upon excision and histopathological examination.
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Article Synopsis
  • Speckled lentiginous nevus syndrome is usually seen in adults and is characterized by a speckled lentiginous nevus and occasional neurological issues.
  • This syndrome is often overlooked in children because it's primarily associated with adult cases.
  • The report details the first known case of this syndrome in a young child, who exhibited muscle atrophy and motor deficits corresponding to the areas affected by the nevus.
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Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma.

Br J Dermatol

November 2018

Department of Pathology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain.

Article Synopsis
  • A 17-year-old male presented with several skin lesions, including a large sebaceous naevus on his face and a speckled lentiginous naevus on his trunk, along with extensive papillomatous lesions in his mouth.
  • He had multiple systemic issues, such as cardiac, musculoskeletal, and eye problems, and developed two primary rhabdomyosarcomas, a rare type of cancer.
  • Genetic analysis revealed an HRAS c.37G>C mutation in all affected areas, suggesting this mutation is linked to his condition and may be an underexplored cause of childhood tumors.
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A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas.

Am J Dermatopathol

February 2018

Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Korea.

Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous.

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Article Synopsis
  • Phacomatosis pigmentokeratotica (PPK) is a rare condition where individuals have a sebaceous nevus and a speckled lentiginous nevus, linked along specific skin lines.
  • A novel KRAS mutation was found in a patient with PPK who developed a rare type of cancer, vaginal botryoid rhabdomyosarcoma, marking a new connection not seen before in medical literature.
  • This finding suggests that PPK may be caused by mutations in the KRAS or HRAS genes and raises concerns about the need for cancer screenings in children diagnosed with PPK due to its potential for malignant development.
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Nevus Spilus (Speckled Lentiginous Nevus) in the Oral Cavity: Report of a Case and Review of the Literature.

Am J Dermatopathol

January 2017

*Department of Oral and Maxillofacial Pathology, Naval Postgraduate Dental School, Bethesda, MD; and †Department of Pathology, Walter Reed National Medical Military Center, Bethesda, MD.

The congenital melanocytic nevus is a pigmented melanocytic lesion that presents at birth or shortly thereafter. It is commonly described on the skin, usually on the trunk and extremities. Only five intraoral cases of congenital melanocytic nevi have been described in the English literature.

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Article Synopsis
  • Nevus spilus (NS) is a type of skin condition that features light brown patches with small darker spots, and occurs in 1.3% to 2.3% of adults globally.
  • There is some concern that a specific feature of NS called hypertrichosis (excess hair growth) could indicate a higher risk of skin cancer (melanoma).
  • The authors argue that NS likely has a lower risk of turning into melanoma compared to similar-sized congenital melanocytic nevi and suggest hypertrichosis is not a reliable marker for melanoma in NS.
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Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?

Clin Case Rep

June 2016

Department of the Medical Genetics of the Russian Medical Academy of Postgraduate Education Barrikadnaya Str. 2/1 Moscow 125993 Russia.

Article Synopsis
  • - In patients with Schimmelpenning-Feuerstein-Mims syndrome, skin symptoms can feature a speckled lentiginous nevus, or nevus spilus.
  • - Studies have discovered that some patients have a mutation in the HRAS gene that affects the tissues of these nevi.
  • - This mutation is described as somatic heterozygous and is found in individuals who have both types of nevi present.
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Mosaic Neurocutaneous Disorders and Their Causes.

Semin Pediatr Neurol

December 2015

Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.

Article Synopsis
  • - Neurocutaneous disorders affect the skin and nervous system, featuring abnormalities like tumors or pigmentation, often displaying unique mosaic patterns in both skin and other organs.
  • - These conditions can manifest in various ways, either primarily involving the skin and nervous system together, or as distinct segmental skin abnormalities that reflect similar issues in other bodily tissues.
  • - Recent advancements in molecular genetics have revealed the signaling pathways (like RAS and mTOR) that contribute to the diverse manifestations and mosaic patterns seen in these disorders, prompting renewed interest in specific syndromes such as neurofibromatoses and Sturge-Weber syndrome.
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