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Indian Journal of Ophthalmology Dec 2019Tumors of the conjunctiva and cornea comprise a large and varied spectrum of conditions. These tumors are grouped into two major categories of congenital and acquired... (Review)
Review
Tumors of the conjunctiva and cornea comprise a large and varied spectrum of conditions. These tumors are grouped into two major categories of congenital and acquired lesions. The acquired lesions are further subdivided based on origin of the mass into surface epithelial, melanocytic, vascular, fibrous, neural, histiocytic, myxoid, myogenic, lipomatous, lymphoid, leukemic, metastatic and secondary tumors. Melanocytic lesions include nevus, racial melanosis, primary acquired melanosis, melanoma, and other ocular surface conditions like ocular melanocytosis and secondary pigmentary deposition. The most frequent nonmelanocytic neoplastic lesions include squamous cell carcinoma and lymphoma, both of which have typical features appreciated on clinical examination. The caruncle displays a slightly different array of tumors compared to those elsewhere on the conjunctiva, as nevus and papilloma are most common, but oncocytoma and sebaceous gland hyperplasia, adenoma, and carcinoma can be found. In this report, we provide clinical description and illustration of the many conjunctival and corneal tumors and we discuss tumor management.
Topics: Conjunctival Neoplasms; Corneal Diseases; Eye Neoplasms; Humans
PubMed: 31755426
DOI: 10.4103/ijo.IJO_2040_19 -
CMAJ : Canadian Medical Association... Jul 2019
Topics: Alopecia; Female; Head and Neck Neoplasms; Humans; Infant; Nevus; Scalp; Skin Neoplasms
PubMed: 31285380
DOI: 10.1503/cmaj.190030 -
Pediatric Dermatology Nov 2022Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of...
BACKGROUND
Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and one case with a GJA1 mutation have been previously reported.
OBJECTIVE
To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN.
METHODS
We recruited patients diagnosed with ILVEN based on clinical and histopathological criteria. Exome sequencing of affected skin with or without blood/saliva was performed and germline and somatic pathogenic variants were identified.
RESULTS
Five patients were enrolled. All had skin lesions from birth or early childhood. Two patients developed psoriasis vulgaris after the diagnosis of ILVEN. The first had a germline heterozygous CARD14 mutation and a post-zygotic hotspot mutation in KRT10. The histopathologic evaluation did not show epidermolytic hyperkeratosis. The second had a post-zygotic hotspot mutation in HRAS. Her ILVEN became itchy once psoriasis developed. One patient was re-diagnosed with linear porokeratosis based on a germline mutation in PMVK and a post-zygotic second-hit mutation. Two patients were re-diagnosed with congenital hemidysplasia with ichthyosiform nevus and limb defect nevus based on germline NSDHL mutations.
CONCLUSION
ILVEN is a clinical descriptor for a heterogenous group of mosaic inflammatory disorders. Genetic analysis has the potential to more precisely categorize ILVEN and permits pathogenesis-directed therapies in some cases.
Topics: Female; Humans; Child, Preschool; Nevus, Sebaceous of Jadassohn; Skin Neoplasms; Nevus; Nevus, Pigmented; Psoriasis; Skin Diseases; Guanylate Cyclase; Membrane Proteins; CARD Signaling Adaptor Proteins; 3-Hydroxysteroid Dehydrogenases
PubMed: 35853659
DOI: 10.1111/pde.15094 -
Dermatology Online Journal Dec 2013We present a case of a 35-year-old woman with a yellow, verrucous, and itchy plaque on her scalp. Within this plaque, there was an erythematous, bleeding papule....
We present a case of a 35-year-old woman with a yellow, verrucous, and itchy plaque on her scalp. Within this plaque, there was an erythematous, bleeding papule. Histopathologic findings were compatible with a diagnosis of syringocystadenoma papilliferum within a nevus sebaceous. We present a brief review of the natural history of nevus sebaceus, its pathogenesis, and management.
Topics: Adenoma, Sweat Gland; Adult; Female; Head and Neck Neoplasms; Humans; Nevus, Sebaceous of Jadassohn; Scalp; Skin Neoplasms; Sweat Gland Neoplasms
PubMed: 24365013
DOI: No ID Found -
The Pan African Medical Journal 2022
Topics: Humans; Hyperpigmentation; Nevus; Nevus, Sebaceous of Jadassohn; Skin Neoplasms
PubMed: 35519166
DOI: 10.11604/pamj.2022.41.142.33417 -
Anais Brasileiros de Dermatologia 2022Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology... (Review)
Review
BACKGROUND
Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology is not yet well understood, but it is believed to be related to post-zygotic mutations in the HRAS, NRAS and KRAS genes.
OBJECTIVE
To describe the clinical manifestation of nevus sebaceous, as well as the main management techniques addressed in the medical literature. Moreover, the present study discusses a case report of a congenital linear nevus in the left retroauricular region found in a male patient, without extracutaneous manifestations.
METHOD
A narrative review of the literature was carried out.
DISCUSSION
Nevus sebaceous occurs as lesions with a linear or oval appearance, with a smooth or verrucous texture, generally alopecic and with very variable color. Moreover, nevus sebaceous is one of the components of the so-called linear nevus syndrome or Schimmelpenning-Feuerstein-Mims syndrome, which is associated with multisystemic complications. The treatment of the lesions is still controversial; however, most experts indicate surgical excision as the most frequently adopted treatment method, in addition to multidisciplinary follow-up when the diagnosis of Schimmelpenning-Feuerstein-Mims syndrome is established.
CONCLUSION
The linear nevus syndrome constitutes a rare manifestation; however, its diagnosis should be considered in children born with nevus sebaceous. There is no consensus yet on the best therapy, but surgical removal has shown to be a viable option.
Topics: Child; Hamartoma; Humans; Male; Nevus; Nevus, Pigmented; Nevus, Sebaceous of Jadassohn; Skin Neoplasms; Syndrome
PubMed: 35863943
DOI: 10.1016/j.abd.2021.11.001 -
Dermatology Online Journal Oct 2013Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a...
Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying the left side of posterior trunk, the left face, the right side of the anterior trunk, and the right upper limb. These plaques had been present since birth. In addition, she had a flat salmon to yellow nevus on the left parietal and temporal region of the scalp, with a bald patch. She was diagnosed after birth with an interauricular communication. The skin biopsy from the lesion of the right arm revealed an epidermal nevus that occupied the epidermis completely. Routine and other complementary laboratory blood tests, including platelet count, thyroid function tests, 25-hydroxy-vitamin D, parathyroid hormone, and plasma and urinary levels of calcium and phosphorus were negative. Cerebral magnetic resonance and renal ultrasound were normal. The diagnosis of SS was established. She is being followed in the clinics of Dermatology, Cardiology, Pediatrics, and Pediatric Neurology. We report this case to point out the importance of investigating patients with epidermal nevus to identify associated conditions.
Topics: Diagnosis, Differential; Female; Humans; Infant; Nevus; Nevus, Pigmented; Nevus, Sebaceous of Jadassohn; Skin Abnormalities; Skin Neoplasms
PubMed: 24139367
DOI: No ID Found -
Molecules and Cells Jun 2019gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the... (Review)
Review
gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies. Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. The frequently seen neurological defects are developmental delay, macrocephaly, seizures, neurocognitive deficits, and structural malformations. Some of the defects stemmed from dysregulation of molecular and cellular processes affecting early neurodevelopmental processes. In this review, we will discuss the implications of RAS-MAPK pathway components in neurodevelopmental processes and pathogenesis of RASopathies.
Topics: Costello Syndrome; Ectodermal Dysplasia; Facies; Failure to Thrive; Heart Defects, Congenital; Humans; Infant, Newborn; Neoplasms; Neurodevelopmental Disorders; Neurofibromatosis 1; Nevus, Sebaceous of Jadassohn; Noonan Syndrome; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-raf; SOS1 Protein; Signal Transduction; ras Proteins
PubMed: 31250618
DOI: 10.14348/molcells.2019.0037