(1) Background: Genodermatoses are a clinically and genetically heterogenous group of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task due to their rarity and diversity. Dermoscopy is a non-invasive, easily accessible, and rapid tool used in dermatology not only for diagnostic processes but also for monitoring therapeutic responses. Standardized terminologies have been published for its proper use, reproducibility, and comparability of dermoscopic terms. (2) Methods: Here, we aimed to investigate dermoscopic features in various genodermatoses by conducting a systematic review and comparing its results to our own findings, data of patients diagnosed with genodermatoses at the Department of Dermatology, Venereology and Dermatooncology, Semmelweis University. (3) Results: Our systematic search provided a total of 471 articles, of which 83 reported both descriptive and metaphoric dermoscopic terminologies of 14 genodermatoses. The literature data were then compared to the data of 119 patients with 14 genodermatoses diagnosed in our department. (4) Conclusion: Dermoscopy is a valuable tool in the diagnosis of genodermatoses, especially when symptoms are mild. To enable the use of dermoscopy as an auxiliary diagnostic method, existing standardized terminologies should be extended to more genodermatoses.

Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis

O fitobezoar é uma massa indigerível composta por vegetais e fibras de frutas, formando um corpo sólido capaz de causar obstrução intestinal. Embora apresente baixa prevalência, fitobezoar é uma etiologia importante em regiões geográficas com alto consumo de alimentos fibrosos. Avaliar a obstrução intestinal causada pelo fitobezoar e entender os fatores de risco. Trata-se de uma revisão integrativa na base de dados PUBMED utilizando os descritores “PHYTOBEZOAR AND OBSTRUCTION’’ para artigos publicados entre 2019 e 2024. Os fitobezoares são raramente as causas das obstruções intestinais (4% dos casos). A manifestação clínica pode variar de acordo com a localização exata do bezoar e de sua composição, o diagnóstico pode ser feito a partir de uma tomografia computadorizada com contraste. A formação de fístulas, ulcerações e aderências são complicações recorrentes, casos graves são comuns principalmente em pacientes com afecções pregressas no TGI. Pacientes com idades superiores a 65 anos passam por mais tratamentos cirúrgicos (60%) em relação a pacientes com idades inferiores (40%). Intervenções cirúrgicas prévias como o tratamento para úlcera péptica foi o maior fator de risco entre os pacientes, a idade não influenciou na prevalência. O fitobezoar é causa pouco prevalente de obstrução intestinal. No entanto, é de difícil diagnóstico e pode causar complicações graves para o paciente como perfuração e sangramento gástrico, formação de fístulas, ulcerações e aderências. A literatura é escassa com predomínio de relatos de caso, sendo necessário a realização de novos estudos mais robustos.

Obstrução intestinal por fitobezoar: revisão integrativa

Castleman disease (CD) is a rare lymphoproliferative disorder characterized by localized (unicentric) or systemic (multicentric) lymphadenopathy. This study presents a unique case of a 29-year-old female with a rare pelvic presentation of unicentric Castleman disease, specifically the hyaline vascular variant. Despite surgical resection, an unresectable residual lesion prompted adjuvant radiotherapy and subsequent chemotherapy. The literature highlights surgical resection as the primary treatment for localized Castleman disease; however, radiotherapy and combined chemotherapy regimens like cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) have shown promise in unresectable cases, emphasizing a multidisciplinary approach. This case underscores the importance of tailoring treatment strategies for uncommon Castleman disease presentations. 

The Role of Radiation Therapy in Unicentric Castleman Disease: A Case Report

Gorlin-Goltz syndrome (GGS) among Indians is rarely reported. Since 1960, only 38 cases having 48 patients of Gorlin-Goltz syndrome have been identified in the Indian population. It is crucial to diagnose this illness early because it can be connected to a malignant lesion like fibrosarcoma, leiomyosarcoma or rhabdomyosarcoma. The four patients in this case series were identified and treated in our department between 2019 and 2023. The average patient age was around 20 years old. Jaw swelling and tooth movement were the two most typical presenting concerns. Odontogenic keratocysts (100%), palmer pits (100%), plantar pits (50%), calcification of falx cerebri (50%), and rib abnormalities (50%), were the most prevalent characteristics. None of the patients had basal cell cancer, cleft lip, or medulloblastoma. Multiple odontogenic keratocysts were present in three cases, whereas a single odontogenic keratocyst (OKC) was seen in one patient. Patients were managed with either marsupialization or enucleation, depending on the size of the cyst. Two cases with a large cyst size were marsupialized by using a modified obturator. Two cases with small cysts were managed with enucleation of the cyst followed by chemical cauterization. Recurrence was seen in two cases. In one patient, we noticed the formation of a new cyst. A GGS diagnosis can be made by having a systemic evaluation of the patient. A thorough examination of the patient should be performed in every histopathology-diagnosed case of OKC. This will help to miss the syndromic cases. The treatment part should be conservative, like marsupialization with an obturator in a large cyst. The obturator helps maintain patient hygiene and prevents regular visits for changing dressings. Small-sized cysts can be managed with enucleation and chemical cauterization. Radical resection should be avoided.

Gorlin-Goltz Syndrome: A Case Series

Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is a rare condition characterised by skeletal abnormalities, odontogenic keratocysts and basal cell nevi. Diagnosis of this condition is based on major and minor clinical and radiological criteria. Oral medicine and radiology specialists are crucial in diagnosing this condition due to the oral and maxillofacial symptoms. However, conventional radiographs may not provide enough information for an accurate diagnosis, including the two-dimensional imaging modalities. Therefore, the importance of advanced digital imaging for diagnosis is highlighted in this case report of a male patient in his late 20s. The patient had missing teeth and asymptomatic multiple swelling in the orofacial region for 2 months. Routine clinical examination, radiographic investigations and histopathological evaluation led to incidental finding of multiple cystic lesions in the maxillary and mandibular region which on further evaluation led to the final diagnosis of Gorlin-Goltz syndrome. 

Nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: an incidental finding

Patient: Female, 58-year-old Final Diagnosis: Gorlin syndrome Symptoms: Multiple pigmented skin lesions Clinical Procedure: — Specialty: Dermatology Objective: Rare disease Background: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), nevoid basal cell carcinoma syndrome (NBCCS), and Jaw cyst-Basal cell nevus-Bifid rib syndrome, is a rare multisystemic syndrome that can affect a remarkable number of tissues and organs in the human body. Patients with this syndrome are in jeopardy of developing basal cell skin cancer during puberty or early adulthood. Case Report: Herein, we report a case of a 58-year-old woman who had multiple pigmented skin lesions and a palpable tumor of the left scapula. The patient underwent surgical excision of the above-mentioned lesions. The histo-pathological examination revealed that 10 of them were basal cell skin carcinomas (BCCs); therefore, the patient was proven to have the syndrome. She had a history of similar skin lesions, which were removed before the age of 20. Conclusions: This case highlights that rare phenomena, such as the presence of multiple BCCs, require additional investigations and a multidisciplinary approach since a rare and potentially life-threating condition might be the underlying cause. Early diagnosis of Gorlin syndrome is of paramount importance to facilitate the appropriate therapeutic approach, as directed by a multidisciplinary team. Patients with multiple skin lesions need to have regular assessments by their general practitioner or dermatologist, with dermoscopy serving as an important preventive measure. Furthermore, because pathogenesis of the syndrome is characterized by development of basal cell carcinomas, consecutive follow-up is of a great significance.

https://amjcaserep.com/download/inPress/idArt/939117

An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome

/pdf/idiopathic-multicentric-castleman-disease-with-cutaneous-98dlq0mq.pdf

Idiopathic Multicentric Castleman Disease with Cutaneous Manifestation: Case Report

Phytobezoars constitute conglomerates of indigested plant fibers and are a rare cause of acute mechanical ileus. They exhibit an increased prevalence in the elderly population and people with specific predisposing conditions. Radiological imaging can often set a definitive diagnosis and dictate the optimal therapeutic approach, combined with the patient’s clinical status. An 81-year-old male presented with deteriorating clinical symptoms of intestinal obstruction, and an exploratory laparotomy was performed following inconclusive radiological findings; multiple phytobezoars and incipient intussusception were revealed intraoperatively. A patient’s medical history can often raise clinical suspicion of phytobezoars. However, a careful etiological investigation is imperative in all cases of mechanical ileus in advanced ages; early detection and dissolution of phytobezoars, when applicable, can reduce the need for surgical interventions.

/pdf/phytobezoar-induced-mechanical-ileus-and-incipient-3mafssp3.pdf

Phytobezoar-Induced Mechanical Ileus and Incipient Intussusception: A Case Report

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An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome

Idiopathic Multicentric Castleman Disease with Cutaneous Manifestation: Case Report

Phytobezoar-Induced Mechanical Ileus and Incipient Intussusception: A Case Report