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Pediatric Dermatology Apr 2024The follicular variant of Becker's nevus is an under-reported entity. We present the rare occurrence of follicular Becker's nevus in 7 patients, confirmed through...
The follicular variant of Becker's nevus is an under-reported entity. We present the rare occurrence of follicular Becker's nevus in 7 patients, confirmed through dermoscopy and histopathological examination. Dermoscopy shows perifollicular hypopigmentation surrounded by a well-defined net-like pigmentation corresponding clinically to the presence of folliculocentric macules. Histology shows prominent basal and suprabasal melanization surrounding the follicle, corresponding to well-defined net-like pigmentation seen on dermoscopy. However, the melanization does not extend along the entire length of the follicular epithelium leading to perifollicular hypopigmentation on dermoscopy. Though biopsy is confirmatory, it is not usually necessary.
PubMed: 38689523
DOI: 10.1111/pde.15641 -
World Journal of Clinical Cases Apr 2024Jaffe-Campanacci syndrome (JCS) is a very rare syndrome. The treatment of JCS is more conservative, and most authors recommend that no surgery should be done in...
BACKGROUND
Jaffe-Campanacci syndrome (JCS) is a very rare syndrome. The treatment of JCS is more conservative, and most authors recommend that no surgery should be done in asymptomatic patients. The conventional concept holds that the natural course of non-ossifying fibromas (NOFs) grows with the development of bones, and the osteolytic region gradually stops expanding and self-healing through bone ossifying around the lesion and ossification within the lesion. But in this case, the bone lesions were potentially biologically aggressive, which led to severe limb deformities and pain.
CASE SUMMARY
We present the case of a 5-year-old girl with JCS presenting with not only NOF sand café-au-lait macules, but also showed features not mentioned before, severe limb pain, and at last resulted in amputation. She was admitted to our hospital after presenting with claudication and mild pain over her right thigh, which worsened when stretching or being touched. Skin examination revealed multiple café-au-lait macules on the neck, arm, axilla, and torso, including the nipples and perineum. Radiographs revealed multiple lytic lesions in the proximal part of the right humerus, distal part of the right clavicle, proximal and distal parts of the right femur, and proximal parts of the right tibia and fibula. Curettage and biopsy were performed on the distal part of the right femur. At the age of 7, the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision, internal fixation, bone grafting, and spica casting. At the age of 10, the girl came to our hospital again for severe pain of the right leg. Amputation from the middle level of the right femur was performed. We present the case of a 5-year-old girl with JCS presenting with not only NOFs and café-au-lait macules, but also showed features not mentioned before, severe limb pain, and at last resulted in amputation. She was admitted to our hospital after presenting with claudication and mild pain over her right thigh, which worsened when stretching or being touched. Skin examination revealed multiple café-au-lait macules on the neck, arm, armpit, and torso, including the nipples and perineum. Radiographs revealed multiple lytic lesions in the proximal part of the right humerus, distal part of the right clavicle, proximal and distal parts of the right femur, and proximal parts of the right tibia and fibula. Curettage and biopsy were performed on the distal part of the right femur. At the age of 7, the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision, internal fixation, bone grafting, and spica casting. At the age of 10, the girl came to our hospital again for severe pain of the right leg. Amputation from the middle level of the right femur was performed.
CONCLUSION
In our opinion, education on preventing pathological fractures and explaining the consequent serious consequences to the parents is a matter of prime significance. At the same time, prophylactic treatment (restricted exercise, support, or surgery) is also considerable for JSC.
PubMed: 38660072
DOI: 10.12998/wjcc.v12.i10.1785 -
Anais Brasileiros de Dermatologia Apr 2024Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined...
BACKGROUND
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing.
OBJECTIVE
To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations.
METHODS
Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months.
RESULTS
The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas.
STUDY LIMITATIONS
Small sample and a limited number of patients with TSC1 pathogenic variants.
CONCLUSION
Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.
PubMed: 38658236
DOI: 10.1016/j.abd.2023.11.004 -
Journal of Medical Case Reports Apr 2024Sarcoidosis is a multisystemic disease characterized by granulomatous inflammation. Sarcoidosis often poses a diagnostic challenge owing to its nonspecific or mild... (Review)
Review
BACKGROUND
Sarcoidosis is a multisystemic disease characterized by granulomatous inflammation. Sarcoidosis often poses a diagnostic challenge owing to its nonspecific or mild clinical features. In 20-35% of cases, sarcoidosis initially presents on skin. However, skin lesions commonly mimic dermatological conditions. Therefore, it is important to not underestimate the skin manifestations and perform histopathological examinations to make a timely diagnosis.
CASE PRESENTATION
We present two cases of 33-year-old Caucasian female patients with orange-red macules and plaques that developed in the eyebrow area 1 and 6 years after microblading, respectively. Histopathological examination confirmed a diagnosis of sarcoidosis. The lymph nodes and lungs were also affected in both patients.
CONCLUSION
Our two reports suggest that an esthetic procedure involving dermal or subcutaneous injection of foreign materials can trigger the development of cutaneous and systemic sarcoidosis. However, this relationship has not been described yet. Physicians should, therefore, be aware of this complication to properly evaluate and treat such patients in a timely manner.
Topics: Humans; Female; Adult; Sarcoidosis; Skin Diseases
PubMed: 38654341
DOI: 10.1186/s13256-024-04439-w -
JAAD Case Reports May 2024
PubMed: 38650592
DOI: 10.1016/j.jdcr.2024.02.030 -
JMIR Dermatology Apr 2024Lichen planus pigmentosus (LPP) is a condition characterized by persistent and asymptomatic brownish-black-to-blue or purple-gray pigmentation, predominantly in the face...
Lichen planus pigmentosus (LPP) is a condition characterized by persistent and asymptomatic brownish-black-to-blue or purple-gray pigmentation, predominantly in the face and sun-exposed areas, commonly in dark-skinned individuals. Several clinical variants of LPP have been reported. However, the ichthyosiform type of LPP has not been reported. We present a 19-year-old male patient who presented with a 7-year history of asymptomatic grayish macules; patches with fine scales on the face, trunk, and upper extremities; and grayish plaques with thick "ichthyosiform" scales on the lower extremities. The diagnosis of LPP was proven by histopathological findings on both the macular and ichthyosiform plaques. Cluster differentiation (CD) 68 stain highlights the same density of pigment-laden macrophages in both the gray macule and the ichthyosiform plaque. The cause of LPP is unknown. Transcription factor anomalies may play a role in increased keratinization of lichen planus lesions. It can be assumed that the mechanism of the altered distribution of keratinization may occur on the ichthyosiform lesions in this patient. The terminology "ichthyosiform lichen planus pigmentosus" is hereby proposed to be added to the clinical variants of LPP.
PubMed: 38640470
DOI: 10.2196/50429 -
Hormone Research in Paediatrics Apr 2024Ovarian Sertoli cell tumors represent a subset of sex cord stromal tumors and are exceedingly rare in prepubertal children. Here, we report a girl with vaginal bleeding...
INTRODUCTION
Ovarian Sertoli cell tumors represent a subset of sex cord stromal tumors and are exceedingly rare in prepubertal children. Here, we report a girl with vaginal bleeding due to a Sertoli cell tumor who was originally thought to have McCune-Albright syndrome (MAS).
CASE PRESENTATION
A previously healthy girl presented at age 2 years 6 months with breast development and vaginal bleeding. On exam, she had Tanner 4 breasts, Tanner 1 pubic hair, estrogenized vaginal mucosa, and a café-au-lait macule. Laboratory studies revealed an elevated estradiol with suppressed gonadotropins and negative tumor markers. Her bone age was advanced by more than 3 years. Pelvic ultrasound (US) revealed an enlarged uterus and a slightly larger left compared to right ovary. She was started on tamoxifen for presumed MAS. A repeat pelvic US 1 month later showed a heterogenous mass in the left ovary which was subsequently resected. Pathology revealed a Sertoli cell tumor, lipid-rich variant. Germline sequencing revealed a pathogenic STK11 variant, diagnostic for Peutz-Jeghers syndrome (PJS).
CONCLUSION
The findings in our patient were strikingly similar to those encountered in MAS. To our knowledge, our patient is the youngest ever reported to present with precocious puberty due to a Sertoli cell tumor in the setting of PJS.
PubMed: 38626741
DOI: 10.1159/000538945 -
JAAD Case Reports Apr 2024
PubMed: 38617890
DOI: 10.1016/j.jdcr.2024.01.040 -
American Journal of Medical Genetics.... Apr 2024Casitas B-lineage lymphoma (CBL) encodes an adaptor protein with E3-ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine...
Casitas B-lineage lymphoma (CBL) encodes an adaptor protein with E3-ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers, particularly myeloid malignancies, whereas germline defects in the same gene underlie a RASopathy having clinical overlap with Noonan syndrome (NS) and predisposing to juvenile myelomonocytic leukemia and vasculitis. Other features of the disorder include cardiac defects, postnatal growth delay, cryptorchidism, facial dysmorphisms, and predisposition to develop autoimmune disorders. Here we report a novel CBL variant (c.1202G>T; p.Cys401Phe) occurring de novo in a subject with café-au-lait macules, feeding difficulties, mild dysmorphic features, psychomotor delay, autism spectrum disorder, thrombocytopenia, hepatosplenomegaly, and recurrent hypertransaminasemia. The identified variant affects an evolutionarily conserved residue located in the RING finger domain, a known mutational hot spot of both germline and somatic mutations. Functional studies documented enhanced EGF-induced ERK phosphorylation in transiently transfected COS1 cells. The present findings further support the association of pathogenic CBL variants with immunological and hematological manifestations in the context of a presentation with only minor findings reminiscent of NS or a clinically related RASopathy.
PubMed: 38613168
DOI: 10.1002/ajmg.a.63627 -
International Journal of Dermatology Apr 2024Vitiligo is a chronic skin condition caused by an autoimmune response that results in the progressive loss of melanocytes and recent studies have suggested that Janus... (Review)
Review
Vitiligo is a chronic skin condition caused by an autoimmune response that results in the progressive loss of melanocytes and recent studies have suggested that Janus kinase inhibitors (JAKi) are emerging as a promising new treatment modality. Therefore, to assess and understand the extent of knowledge in the emerging field of JAKi use in vitiligo, a scoping review of the literature was undertaken. The reviewed articles explored a wide variety of JAKi administered either orally or topically for vitiligo. There were no injectable JAKi studied. Tofacitinib was the most commonly studied oral JAKi in 16 of the 35 studies selected for review, followed by baricitinib (n = 3), and one study each with ritlecitinib, ruxolitinib, and upadacitinib. Ruxolitinib (n = 6) and tofacitinib (n = 6) were the most often studied topical JAKi, followed by delgocitinib (n = 1). Potential benefits may vary between JAKi based on their receptor selectivity profile and coexistent autoimmune diseases. A topical JAKi would be advantageous in limited body area involvement and in adolescents. Concurrent use of JAKi with phototherapy or sun exposure appears beneficial. Most studies permitted the use of other topical agents. Acne-related events, though frequent yet mild, were reported with both oral and topical JAKi. Nasopharyngitis, upper respiratory tract infections, and headaches were the most common adverse effects seen in the larger trials with JAKi. No serious or clinically meaningful hematology or thromboembolic events were detected. Treatment of vitiligo with oral or topical JAKi seems to be promising and the growing evidence shows a favorable risk-benefit profile.
PubMed: 38610078
DOI: 10.1111/ijd.17157