RESUMO
BACKGROUND: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described. OBJECTIVE: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring. METHODS: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases. RESULTS: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209. CONCLUSIONS: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.
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Paediatric high-grade gliomas are among the most common malignancies found in children. Despite morphological similarities to their adult counterparts, there are profound biological and molecular differences. Furthermore, and thanks to molecular biology, the diagnostic pathology of paediatric high-grade gliomas has experimented a dramatic shift towards molecular classification, with important prognostic implications, as is appropriately reflected in both the current WHO Classification of Tumours of the Central Nervous System and the WHO Classification of Paediatric Tumours. Emphasis is placed on histone 3, IDH1, and IDH2 alterations, and on Receptor of Tyrosine Kinase fusions. In this review we present the current diagnostic categories from the diagnostic pathology perspective including molecular features.
Assuntos
Neoplasias Encefálicas , Glioma , Humanos , Glioma/genética , Glioma/patologia , Glioma/classificação , Glioma/metabolismo , Criança , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/classificação , Gradação de Tumores , Isocitrato Desidrogenase/genética , Histonas/metabolismo , Histonas/genética , Biomarcadores Tumorais/genética , PrognósticoRESUMO
A healthy 2-year-old girl presented with multiple asymptomatic subcutaneous nodules on both legs. Histologically demonstrated calcium deposition within the dermis and subcutaneous tissue consistent with calcinosis cutis. Laboratory abnormalities, underlying genetic conditions, and potential triggering factors were ruled out. The lesions resolved over an 18-month period without treatment, emphasizing the importance of the wait-and-see approach in idiopathic cases of calcinosis cutis.
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Calcinose Cutânea , Calcinose , Dermatopatias , Neoplasias Cutâneas , Feminino , Humanos , Pré-Escolar , Calcinose/diagnóstico , Calcinose/patologia , Gordura Subcutânea/patologia , Dermatopatias/diagnóstico , Dermatopatias/patologiaRESUMO
Generalized lymphatic anomaly (GLA) is an infrequent multiorgan disease characterized by the presence of abnormal proliferation of lymphatic vessels. The diagnosis requires histological confirmation, and the treatment is controversial. We are presenting a case of a 28-year-old male patient who was diagnosed with an extragonadal mediastinal nonseminomatous germ cell tumor. He underwent chemotherapy, and during this treatment, radiologic findings evidenced lytic lesions. Multiple biopsies were performed, which revealed the presence of abnormal lymphatic vessels, characteristic of GLA. There are different etiologies of osteolytic lesions, and on some occasions, they mimic a tumoral entity. The clinical suspicion of GLA is the first step in approaching the diagnosis, particularly in young adult patients.
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Cisto Folicular , Hamartoma , Neoplasia de Células Basais , Neoplasias Cutâneas , Humanos , Mamilos , Hamartoma/diagnósticoRESUMO
The upcoming 5th edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours is part of an effort to hierarchically catalogue human cancers arising in various organ systems within a single relational database. This paper summarizes the new WHO classification scheme for myeloid and histiocytic/dendritic neoplasms and provides an overview of the principles and rationale underpinning changes from the prior edition. The definition and diagnosis of disease types continues to be based on multiple clinicopathologic parameters, but with refinement of diagnostic criteria and emphasis on therapeutically and/or prognostically actionable biomarkers. While a genetic basis for defining diseases is sought where possible, the classification strives to keep practical worldwide applicability in perspective. The result is an enhanced, contemporary, evidence-based classification of myeloid and histiocytic/dendritic neoplasms, rooted in molecular biology and an organizational structure that permits future scalability as new discoveries continue to inexorably inform future editions.
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Neoplasias Hematológicas , Histiocitose , Humanos , Organização Mundial da SaúdeAssuntos
Transtornos da Pigmentação , Púrpura , Dermatopatias Vasculares , Dermatopatias , Humanos , Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/diagnóstico , Púrpura/complicações , Estudos Retrospectivos , Dermatopatias/complicações , Dermatopatias/diagnóstico , Dermatopatias Vasculares/complicaçõesRESUMO
Generalized lymphatic anomaly (GLA) is a rare congenital disorder of lymphatic development, presenting with multiple lymphatic malformations in different organs and tissues. Here, we present a case of a female neonate prenatally diagnosed with foetal hydrops and a mediastinal cystic lymphatic malformation that showed postnatal expansive and infiltrative growth into the major airways, compromising mechanical ventilation and further management of the neonate. Complications that arose during surgical treatment of mediastinal structures led to the patient's death. Lymphatic malformations were also noted in the skin at birth. Furthermore, a skin biopsy performed immediately after birth and the autopsy revealed an extremely rare diagnosis of combined macrocystic and microcystic forms of GLA with skin involvement.
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A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hünermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.
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Condrodisplasia Punctata , Anormalidades da Pele , Alopecia , Pré-Escolar , Condrodisplasia Punctata/diagnóstico , Condrodisplasia Punctata/genética , Olho , Face , Feminino , HumanosRESUMO
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed.
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Anorexia nervosa is an eating disorder frequently associated with cutaneous manifestations. A rare type of purpura, known as diffuse reticulate purpura, has been described in patients with anorexia nervosa and severe malnutrition. Typical characteristics of this condition include a purpuric reticulate rash predominantly affecting the trunk that rapidly resolves with adequate feeding. We report two male adolescent patients with anorexia nervosa and severe malnutrition who developed diffuse reticulate purpura.
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Anorexia Nervosa , Transtornos da Alimentação e da Ingestão de Alimentos , Desnutrição , Púrpura , Adolescente , Anorexia Nervosa/complicações , Humanos , Masculino , Desnutrição/complicações , Desnutrição/diagnóstico , Púrpura/etiologiaRESUMO
Sorafenib is a multikinase inhibitor increasingly used for the treatment of several solid tumors. Different types of keratotic lesions, such as squamous cell carcinoma, actinic keratosis, or infundibular cyst, have been reported in association with this therapy. We present a 15-year-old male diagnosed with desmoid fibromatosis who developed multiple penile and scrotal infundibular cysts while receiving treatment with sorafenib.
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Carcinoma de Células Escamosas , Neoplasias Cutâneas , Adolescente , Humanos , Masculino , Niacinamida/efeitos adversos , Compostos de Fenilureia , SorafenibeRESUMO
Pigmented purpuric dermatoses (PPDs) are a group of idiopathic, chronic, and self-resolving conditions easily recognizable in adults but extremely uncommon in infants. We present the youngest patient with PPD reported to date.
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Eczema , Ceratose , Transtornos da Pigmentação , Púrpura , Adulto , Humanos , Lactente , Transtornos da Pigmentação/diagnóstico , Púrpura/diagnósticoRESUMO
A growing number of skin lesions during the COVID-19 pandemic are being recognized. Acral ischemic lesions identical to chilblains are most typical in children and young adults. We report an infant girl, aged 1 month and 29 days, with a peculiar reticulated purpuric eruption on her soles, with positive immunohistochemistry for SARS-CoV-2 in the endothelia of dermal blood vessels. The patient had an excellent outcome without specific therapy.
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COVID-19/complicações , Pé/irrigação sanguínea , Púrpura/virologia , Feminino , Humanos , Lactente , SARS-CoV-2RESUMO
BACKGROUND: We describe two unrelated patients who display similar clinical features including telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. METHODS: We performed trio whole exome sequencing and functional analysis using in vitro kinase assays with recombinant proteins. RESULTS: We identified two different de novo mutations in protein kinase D1 (PRKD1, NM_002742.2): c.1774G>C, p.(Gly592Arg) and c.1808G>A, p.(Arg603His), one in each patient. PRKD1 (PKD1, HGNC:9407) encodes a kinase that is a member of the protein kinase D (PKD) family of serine/threonine protein kinases involved in diverse cellular processes such as cell differentiation and proliferation and cell migration as well as vesicle transport and angiogenesis. Functional analysis using in vitro kinase assays with recombinant proteins showed that the mutation c.1808G>A, p.(Arg603His) represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The mutation c.1774G>C, p.(Gly592Arg) in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation. CONCLUSION: The present cases represent a syndrome, which associates symptoms from several different organ systems: skin, teeth, bones and heart, caused by heterozygous de novo mutations in PRKD1 and expands the clinical spectrum of PRKD1 mutations, which have hitherto been linked to syndromic congenital heart disease and limb abnormalities.