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International Journal of Dermatology Oct 2023Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate... (Review)
Review
Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.3 per 100,000 with a female preponderance. The skin lesions usually appear in infancy or early childhood and cease to progress beyond adolescence. The subtypes DUH 1 and DUH 3 are found to have autosomal dominant inheritance, which is the most common inheritance pattern, while DUH 2 has an autosomal recessive pattern. The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2). DUH is characterized by multiple irregular hyperpigmented macules interspersed with hypopigmented macules in a mottled pattern over the trunk and extremities. The face is involved in 50% of individuals. Rarely, it can also involve hairs, nails, mucous membranes, palms, and soles. Other varied presentations include localized forms, localization of lesions to sun-exposed areas, large macules, uniform palmar hypopigmentation, diffuse hyperpigmentation with spotty depigmented macules, and unilateral involvement. DUH has been reported to be associated with various cutaneous and systemic diseases. The authors have observed cases of DUH associated with hepatocellular carcinoma, solitary keratoacanthoma, and dermoid cyst. The various diagnostic modalities include dermoscopy, histopathology, electron microscopy, and targeted gene sequencing. Though various treatment modalities like NBUVB and lasers have been tried, no treatment is promising.
Topics: Child, Preschool; Adolescent; Female; Humans; Skin Diseases, Genetic; Hyperpigmentation; Liver Neoplasms
PubMed: 37634201
DOI: 10.1111/ijd.16817 -
Laryngo- Rhino- Otologie May 2024The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary... (Review)
Review
The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary discussion between otorhinolaryngologists and pediatricians. In particular, congenital malformations such as choanal atresia or nasal dermoid cysts are discussed, followed by statements on the current procedures for sinogenic orbital complications as well as on the diagnosis and therapy of chronic rhinosinusitis in children. Furthermore, updates on the role of the ENT specialist in the care for children with cystic fibrosis and primary ciliary dyskinesia are provided.
Topics: Humans; Child; Choanal Atresia; Rhinitis; Sinusitis; Dermoid Cyst; Cystic Fibrosis; Chronic Disease
PubMed: 38697148
DOI: 10.1055/a-2178-2957 -
Ear, Nose, & Throat Journal Mar 2024Pilomatrixomas are benign neoplasms derived from hair follicle matrix cells. They are among the most common soft tissue head and neck tumors of childhood.... (Review)
Review
Pilomatrixomas are benign neoplasms derived from hair follicle matrix cells. They are among the most common soft tissue head and neck tumors of childhood. Pilomatrixomas are typically isolated, slow-growing, firm, nontender masses that are adherent to the epidermis but mobile in the subcutaneous plane. This clinical presentation is so characteristic that many experienced surgeons will excise suspected pilomatrixomas without prior imaging. We reviewed the results of this approach to determine whether physical examination alone differentiates pilomatrixomas from other similar soft tissue lesions of the pediatric head and neck. Computerized review of all pilomatrixomas over a 20-year period in a single academic pediatric otolaryngology practice. 18 patients presented to our pediatric otolaryngology practice between 2001 and 2021 with historical and physical findings consistent with pilomatrixoma. Of the 18 patients, 7 were male and 11 were female. Ages ranged from 1.5 to 14 years, with a mean of 7.5 years. Most of the lesions (12) were located in the head and face, while the rest (6) were found in the neck. All patients were treated with complete surgical excision. Pathology confirmed pilomatrixoma in 15 patients. The remaining 3 children were found to have an epidermal inclusion cyst, a ruptured trichilemmal cyst, and a giant molluscum contagiosum lesion, respectively. One additional patient presented with a small lesion of the auricular helix that was thought to be a dermoid cyst, but proved to be a pilomatrixoma on histologic examination. As pilomatrixomas are common and have a very characteristic presentation, surgical excision without prior diagnostic imaging will lead to correct treatment in the majority of cases. High resolution ultrasonography can help to confirm the diagnosis preoperatively, but is not definitive in large case series. Most of the cystic lesions that imitate pilomatrixoma will ultimately require surgical excision.
Topics: Child; Humans; Male; Female; Infant; Child, Preschool; Adolescent; Pilomatrixoma; Skin Neoplasms; Hair Diseases; Head and Neck Neoplasms; Epidermal Cyst
PubMed: 34549614
DOI: 10.1177/01455613211044778 -
The Journal of Pediatrics Nov 2023
Topics: Humans; Dermoid Cyst; Nose Neoplasms; Nose; Fistula
PubMed: 36822508
DOI: 10.1016/j.jpeds.2023.01.022 -
The Journal of Craniofacial SurgeryEpidermoid and dermoid cysts are benign developmental anomalies that can form anywhere in the body. Despite the rarity of incidence in the head and neck, they can arise... (Review)
Review
BACKGROUND
Epidermoid and dermoid cysts are benign developmental anomalies that can form anywhere in the body. Despite the rarity of incidence in the head and neck, they can arise at a variety of craniofacial locations. The purpose of this study was to analyze the clinical features of epidermoid and dermoid cysts arising in the craniofacial region with a literature review.
METHODS
A retrospective study was designed, and clinical features and surgical considerations were investigated from a literature review. Cases of epidermoid cysts in the scalp, temporal area, glabellar area, mouth floor, and buccal mucosa were described.
RESULTS
Dermoid cysts in more lateral regions of the scalp are rarely associated with intracranial extension. Because temporal dermoid cysts have a high rate of intracranial extension, radiological evaluation of the lesions in the temporal area is imperative. Epidermoid cysts in the glabellar area are usually superficial. Consideration of the surgical approach for an epidermoid cyst of the mouth floor is important. Because epidermoid cysts in the buccal mucosa are extremely rare, differential diagnosis was emphasized. Epidermoid cysts in the scalp, in the temporal intradiploic area, on the glabellar area in the periorbital region, in the mouth floor, and in the buccal mucosa were surgically excised considering the depth and location. Ten cases of epidermoid cysts in the buccal mucosa were retrieved from the literature review.
CONCLUSIONS
Consideration of the anatomic locations of epidermoid and dermoid cysts in the craniofacial region might help facilitate accurate diagnosis and treatment.
Topics: Humans; Epidermal Cyst; Dermoid Cyst; Retrospective Studies; Face; Scalp
PubMed: 37487139
DOI: 10.1097/SCS.0000000000009561 -
Child's Nervous System : ChNS :... Oct 2023Pineal region tumors (PRTs) are tumors arising from the pineal gland and the paraspinal structures. These tumors are rare and heterogeneous that account for 2.8-10.1%... (Review)
Review
INTRODUCTION
Pineal region tumors (PRTs) are tumors arising from the pineal gland and the paraspinal structures. These tumors are rare and heterogeneous that account for 2.8-10.1% and 0.6-3.2% of tumors in children and in all ages, respectively. Almost all types and subtypes of CNS tumors may be diagnosed in this region. These tumors come from cells of the pineal gland (pinealocytes and neuroglial cells), ectopic primordial germ cells (PGC), and cells from adjacent structures. Hence, PRTs are consisted of pineal parenchyma tumors (PPTs), germ cell tumors (GCTs), neuroepithelial tumors (NETs), other miscellaneous types of tumors, cystic tumors (epidermoid, dermoid), and pineal cyst in addition. The symptoms of PRTs correlate to the increased intracranial cranial pressure due to obstructive hydrocephalus and dorsal midbrain compression. The diagnostic imaging studies are mainly MRI of brain (with and without gadolinium) along with a sagittal view of whole spine. Serum and/or CSF AFP/β-HCG helps to identify GCTs. The treatment of PRTs is consisted of the selection of surgical biopsy/resection, handling of hydrocephalus, neoadjuvant and/or adjuvant therapy according to age, tumor location, histopathological/molecular classification, grading of tumors, staging, and threshold value of markers (for GCTs) in addition.
METHODS
In this article, we review the following focus points: 1. Background of pineal region tumors. 2. Pineal GCTs and evolution of management. 3. Molecular study for GCTs and pineal parenchymal tumors. 4. Review of surgical approaches to the pineal region. 5. Contribution of endoscopy. 6. Adjuvant therapy (chemotherapy, radiotherapy, and combination). 7.
RESULTS
In all ages, the leading three types of PRTs in western countries were PPTs (22.7-34.8%), GCTs (27.3-34.4%), and NETs (17.2-28%). In children and young adults, the leading PRTs were invariably in the order of GCTs (40-80.5%), PPTs (7.6-21.6%), NETs (2.4-37.5%). Surgical biopsy/resection of PRTs is important for precision diagnosis and therapy. Safe resection with acceptable low mortality and morbidity was achieved after 1970s because of the advancement of surgical approaches, CSF shunt and valve system, microscopic and endoscopic surgery. Following histopathological diagnosis and classification of types and subtypes of PRTs, in PPTs, through molecular profiling, four molecular groups of pineoblastoma (PB) and their oncogenic driver were identified. Hence, molecular stratified precision therapy can be achieved.
CONCLUSION
Modern endoscopic and microsurgical approaches help to achieve precise histopathological diagnosis and molecular classification of different types and subtypes of pineal region tumors for risk-stratified optimal, effective, and protective therapy. In the future, molecular analysis of biospecimen (CSF and blood) along with AI radiomics on tumor imaging integrating clinical and bioinformation may help for personalized and risk-stratified management of patients with pineal region tumors.
Topics: Child; Young Adult; Humans; Pinealoma; Brain Neoplasms; Pineal Gland; Central Nervous System Neoplasms; Neoplasms, Germ Cell and Embryonal; Hydrocephalus
PubMed: 37831207
DOI: 10.1007/s00381-023-06081-1