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Dermatology Practical & Conceptual Apr 2023
PubMed: 37196283
DOI: 10.5826/dpc.1302a137 -
American Journal of Hematology Jul 2023The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell...
The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell histiocytosis (-LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAF . Most BRAF samples were analyzed by next-generation sequencing (NGS) with a custom panel of genes for histiocytosis and myeloid neoplasia. Of 415 case samples, there were 366 LCH, 1 Erdheim-Chester disease, 21 Rosai-Dorfman disease (RDD), 21 juvenile xanthogranuloma (JXG, mostly with severe presentation), and 6 malignant histiocytosis (MH). BRAF was the most common mutation found in LCH (50.3%, n = 184). Among 105 non-BRAF -mutated LCH case samples, NGS revealed mutations as follows: MAP2K1 (n = 44), BRAF exon 12 deletions (n = 26), and duplications (n = 8), other BRAF V600 codon mutation (n = 4), and non-MAP-kinase pathway genes (n = 5). Wild-type sequences were identified in 17.1% of samples. BRAF was the only variant significantly correlated with critical presentations: organ-risk involvement and neurodegeneration. MAP-kinase pathway mutations were identified in seven RDD (mostly MAP2K1) and three JXG samples, but most samples were wild-type on NGS. Finally, two MH samples had KRAS mutations, and one had a novel BRAF mutation. Rarely, we identified mutations unrelated to MAP-kinase pathway genes. In conclusion, we characterized the mutational spectrum of childhood LCH and clinical correlations of variants and subtypes. Variants responsible for JXG and RDD were not elucidated in more than half of the cases, calling for other sequencing approaches.
Topics: Humans; Child; Histiocytosis, Langerhans-Cell; Proto-Oncogene Proteins B-raf; Erdheim-Chester Disease; Mutation; Exons
PubMed: 37115038
DOI: 10.1002/ajh.26938 -
Preliminary evaluation of penile papule dermatoses with reflectance confocal microscopy in children.Skin Research and Technology : Official... Apr 2023Owing to their similar appearance, lichen striatus (LS), lichen nitidus (LN), juvenile xanthogranuloma (JXG), and molluscum contagiosum (MC) on the penis often lead to...
BACKGROUND
Owing to their similar appearance, lichen striatus (LS), lichen nitidus (LN), juvenile xanthogranuloma (JXG), and molluscum contagiosum (MC) on the penis often lead to misdiagnosis and missed diagnosis, especially in children. In vivo evaluation of penile dermatoses with reflectance confocal microscopy (RCM) is helpful in the diagnosis of these ambiguous lesions in children.
METHODS
We recruited 12 patients with LS, nine with LN, seven with JXG, and nine with MC and evaluated the characteristics and distinguishing features of the four kinds of papule dermatoses on the penis using RCM.
RESULTS
The four dermatoses all had unique RCM features. LS generally showed focally destroyed dermal papillary rings, with numerous mononuclear cell clusters aggregated inside the papillary rings, and highly refractive clumps were observed. For LN, the dermal papillary rings were completely destroyed and arranged in a solitary, enlarged, cavity-like structure, in which round cells, particulate matter structures, and plump cellular structures were aggregated; the adjacent skin was completely normal. In JXG, the dermal papillary rings were significantly dilated, and the superficial dermis was filled with different-sized large bright ring cells; smaller, refractive, roundish structures; and particulate matter. For MC, the normal structures completely disappeared; the lesions were arranged in a crater-shaped structure; and a mass-like substance formed by the aggregation of multiple, uniform, roundish structures was observed within the crater.
CONCLUSION
RCM allows for real-time visualization of major key diagnostic and distinguishing features of four papule dermatoses, LS, LN, JXG, and MC, on the penis in children.
Topics: Male; Humans; Child; Skin Neoplasms; Skin; Keratosis; Pruritus; Microscopy, Confocal
PubMed: 37113081
DOI: 10.1111/srt.13330 -
Histopathology Aug 2023The aim was to test the expression of PU.1 on different types of histiocytoses and to test the utility of PU.1 in confirming or excluding a histiocytic origin in tumour...
AIMS
The aim was to test the expression of PU.1 on different types of histiocytoses and to test the utility of PU.1 in confirming or excluding a histiocytic origin in tumour samples with suspicion of histiocytosis.
METHODS AND RESULTS
We analysed 66 biopsies of nonmalignant histiocytoses represented by Langerhans-cell histiocytosis (n = 13), Erdheim-Chester disease (ECD) (n = 19), Rosai-Dorfman disease (RDD) (n = 14), mixed ECD-RDD (n = 3), ALK-positive histiocytosis (n = 6), and juvenile xanthogranuloma (n = 11). All cases were positive for PU.1 in reactive and neoplastic histiocytes. In addition, 39 cases of tumours with high-grade cytological atypia were referred to our center as suspicion of malignant histiocytosis/histiocytic sarcoma and only 18 were confirmed. Indeed, more than half of these tumours (21/39) were either undifferentiated malignant tumours with a stroma rich in histiocytes, diffuse large B-cell lymphoma, or high-grade dedifferentiated liposarcoma. PU.1 was useful to distinguish between the negativity of large atypical nuclei and the positivity of stromal reactive histiocytes.
CONCLUSION
PU.1 is expressed by all types of histiocytosis. It distinguishes histiocytosis from histiocyte-rich tumours with an easy interpretation due to its sharp nuclear staining. Its negativity in lesional/tumour cells in histiocyte-like lesions is useful to eliminate a histiocytosis.
Topics: Humans; Histiocytes; Histiocytosis; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Erdheim-Chester Disease; Hematologic Neoplasms
PubMed: 37012662
DOI: 10.1111/his.14909 -
A Multifaceted Approach to Treatment of Recalcitrant Cutaneous Periorbital Juvenile Xanthogranuloma.Journal of Ophthalmic & Vision Research 2023To demonstrate novel treatments for patients with high juvenile xanthogranuloma (JXG) eyelid lesion burden.
PURPOSE
To demonstrate novel treatments for patients with high juvenile xanthogranuloma (JXG) eyelid lesion burden.
CASE REPORT
A 14-year-old girl was referred to the oculoplastic surgery service for management of worsening extensive bilateral eyelid and adnexal lesions in the setting of JXG. The patient underwent intra-lesional steroid injections, serial excisions, and reconstruction with skin grafts. She was subsequently treated with CO laser-assisted topical steroid application, which resulted in lesion regression.
CONCLUSION
A novel multimodal approach to treatment of severe periocular JXG, incorporating surgical debulking, skin autograft, CO2 laser, and intra-lesional steroids, can be effective for lesion control.
PubMed: 36937193
DOI: 10.18502/jovr.v18i1.12733 -
Radiology Case Reports May 2023Juvenile xanthogranuloma (JX) is a non-Langerhans cell histiocytosis. Although precipitating factors remain unclear, it has been described mainly in infancy and early...
Juvenile xanthogranuloma (JX) is a non-Langerhans cell histiocytosis. Although precipitating factors remain unclear, it has been described mainly in infancy and early childhood. The giant variant of JX is a rare form that presents in infancy, measures over 2 cm and tends to involute only partly. Herein, we report a very rare localization of a giant JX in the parotid gland, discovered at age 1 month in an infant of a twin pregnancy and studied with ultrasound and magnetic resonance imaging.
PubMed: 36923389
DOI: 10.1016/j.radcr.2023.01.103 -
BMC Pediatrics Mar 2023Subepidermal calcified nodule (SCN) is a type of calcinosis cutis that usually occurs in children. The lesions in the SCN resemble those of other skin diseases, such as...
BACKGROUND
Subepidermal calcified nodule (SCN) is a type of calcinosis cutis that usually occurs in children. The lesions in the SCN resemble those of other skin diseases, such as pilomatrixoma, molluscum contagiosum, and juvenile xanthogranuloma, leading to a high rate of misdiagnoses. Noninvasive in vivo imaging techniques, represented by dermoscopy and reflectance confocal microscopy (RCM), have dramatically accelerated skin cancer research over the past decade, and their applications have greatly expanded into other skin disorders. However, the features of an SCN in dermoscopy and RCM have yet to be reported previously. Combining these novel approaches with conventional histopathological examinations is a promising method for increasing diagnostic accuracy.
CASE PRESENTATION
We report on a case of SCN of the eyelid diagnosed with the aid of dermoscopy and RCM. A 14-year-old male patient who presented with a painless yellowish-white papule on his left upper eyelid was previously diagnosed with a common wart. Unfortunately, treatment with recombinant human interferon gel was not effective. To achieve a correct diagnosis, dermoscopy and RCM were performed. The former showed closely grouped multiple yellowish-white clods surrounded by linear vessels, and the latter exhibited hyperrefractile material nests at the dermal-epidermal junction level. The alternative diagnoses were, therefore, excluded because of in vivo characterizations. Subsequent surgical excision, histological examination, and von Kossa staining were performed. Pathology showed hyperkeratosis of the epidermis, a downward-directed basal-layer expansion, and small amorphous basophilic deposits scattered throughout the papillary dermis. The von Kossa staining confirmed calcium deposits in the lesion. An SCN was then diagnosed. During the 6-month follow-up, no relapse was observed.
CONCLUSIONS
Patients with SCN could benefit from dermoscopy and RCM, which help achieve an accurate diagnosis. Clinicians should consider the possibility of an SCN for an adolescent patient with painless yellowish-white papules.
Topics: Adolescent; Child; Male; Humans; Dermoscopy; Skin; Calcinosis Cutis; Calcium; Microscopy, Confocal
PubMed: 36869283
DOI: 10.1186/s12887-023-03913-6 -
Neurology India 2023
Topics: Humans; Xanthogranuloma, Juvenile; Cognitive Dysfunction
PubMed: 36861607
DOI: 10.4103/0028-3886.370469 -
Archivos Argentinos de Pediatria Oct 2023The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main...
The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main differential diagnoses include infections, other neoplastic diseases with skin involvement and histiocytic disorders, among others, as they entail different prognostic and therapeutic approaches. Here we describe two patients who were initially diagnosed with leukemia cutis, whose final diagnosis was of non-malignant diseases.
Topics: Humans; Leukemia; Skin Neoplasms; Skin; Diagnosis, Differential
PubMed: 36857109
DOI: 10.5546/aap.2022-02796.eng -
International Journal of Surgical... Dec 2023Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis (LCH) that results in multiorgan disease involving the skin, bones, lungs, and kidneys. Female...
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis (LCH) that results in multiorgan disease involving the skin, bones, lungs, and kidneys. Female reproductive system manifestation of ECD was rare. Herein, we report a case of ECD involving the left ovary and fallopian tube. A 69-year-old woman presented with abdominal pain for 20 days. Magnetic resonance imaging revealed a solid and cystic mass on the left pelvic cavity. Histological examination revealed ovarian and fallopian tube infiltration by abundant histiocytes, with single small nuclei and foamy cytoplasm, reactive small lymphocytes, and plasma cells. Based on histopathological and immunohistochemical findings of positivity for CD68, CD163, and BRAF V600E and negativity for CD1α and S100, the molecular finding of V600E mutation, the patient was diagnosed with ECD. Positron emission tomography examination did not reveal any other lesions. The patient recovered well 12 months after surgery without any treatment. ECD involving the left fallopian tube and ovary was rare and needed to be differentiated from LCH, Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), IgG4-related disease (IgG4RD), and metastatic signet ring cell carcinoma.
Topics: Humans; Female; Aged; Erdheim-Chester Disease; Proto-Oncogene Proteins B-raf; Histiocytes; Carcinoma; Carcinoma, Ovarian Epithelial; Ovarian Neoplasms; Immunoglobulin G
PubMed: 36855299
DOI: 10.1177/10668969231157780