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Generalized lymphatic anomaly (GLA), previously known as lymphangiomatosis, is a rare developmental disease characterized by abnormal proliferation of lymphatic vascular structures that may involve the dermis, soft tissue, bone, and visceral parenchyma. Being an uncommon condition and the lack of specific symptoms often result in a delayed diagnosis or even misdiagnosis, which, in addition to its progressive nature, can lead to dysfunction of vital organs, and ultimately, a poor prognosis. In this report, we present a unique case of GLA in an upper Egyptian female child. Increasing awareness of the possible phenotypic presentations of such anomalies can lead to early diagnosis and possibly more effective management before significant organ damage ensues. [ABSTRACT FROM AUTHOR]

Background: Pulmonary capillary hemangiomatosis (PCH) is an idiopathic disease with the anomalous proliferation of a small capillary-like vessel in the pulmonary tissue, which can lead to a severe form of PH. There are only several cases of PCH described in veterinary literature: 27 cases in dogs and 2 cases in cats. In veterinary medicine, PH is mostly recognized as a consequence of left heart failure as a progression of the postcapillary PH to the precapillary form. PCH is mostly described as a primary disease, but resistant postcapillary PH with the high possibility of pulmonary edema raises speculation that PCH could be a secondary malformation to the left heart disease. Aim: Discover the features associated with the shift between left- and right-sided heart disease in the context of PH development. Methods: Retrospective analysis of materials from cats and dogs with histological markers of PCH (sPCH) versus those with right heart failure (RHF). Results: Animals with histological and immunohistochemistry markers of PCH had a previous history of disease with left heart volume overload. There were no differences between the groups in radiography and gross pathology. Histologically, pulmonary fibrosis and arteriopathy could be found in RHF; in sPCH--a duplication of capillaries in alveolar septa and bizarre proliferation in surrounding structures. Conclusion: PCH could be a secondary pattern of vascular remodeling due to volume overload. [ABSTRACT FROM AUTHOR]

Meningioangiomatosis (MAM) remains a poorly understood lesion responsible for epileptic disease. In the past, MAM was primarily described in the context of neurofibromatosis type 2 before being mainly reported sporadically. Moreover, the malformative or tumoral nature is still debated. Because a subset of MAM are associated with meningiomas, some authors argue that MAM corresponds to an infiltration pattern of these tumors. For these reasons, MAM has not been added to the World Health Organization (WHO) Classification of Central Nervous System Tumors as a specific entity. In the present study, we characterized a series of pure MAM (n = 7) and MAM associated with meningiomas (n = 4) using histopathology, immunohistochemistry, genetic (fluorescent in situ and DNA sequencing analyses), and epigenetic (DNA‐methylation profiling) data. We evidenced two distinct morphological patterns: MAM with a fibroblastic‐like pattern having few lesional cells, and MAM with a more cellular pattern. A subset was associated with the genetic alterations previously reported in meningiomas (such as a KMT2C mutation and a hemizygous deletion of chromosome 22q including the NF2 gene). The DNA‐methylation profile, using a t‐distributed stochastic neighbor embedding analysis, evidenced that MAM (pure or associated with meningiomas) clustered in a separate group from pediatric meningiomas. The present results seem to suggest that MAM represents a neoplastic lesion and encourage the further study of similar additional series so that it may be included in a future WHO classification. [ABSTRACT FROM AUTHOR]

Background: Diffuse neonatal hemangiomatosis (DNH) is a rare disorder typically recognized at birth or during the neonatal period. DNH involves three or more organ systems, including the central nervous system (CNS). In these cases, serious complications such as hemorrhages and obstructive hydrocephalus can develop. Case report: We present a case of DNH with intracranial hypertension and CNS hemorrhagic lesions on the mesencephalic aqueduct, resulting in triventricular hydrocephalus, treated with endoscopic ventriculocisternostomy (ETV) and medical therapy. Discussion: DNH is a rare condition that can involve the CNS with serious complications. From a review of the literature, we highlighted only two cases of DNH with brain involvement treated surgically. We report the successful outcome of ETV, along with surgical considerations, imaging findings, and the complete resolution of cerebral and skin lesions following medical therapy. Conclusions: Medical therapy is not standardized and must be individualized. In patients who develop severe neurological symptoms such as obstructive hydrocephalus, surgery may be considered to avoid neurological sequelae. [ABSTRACT FROM AUTHOR]

• Consider cutaneous bacillary angiomatosis in mildly immunocompromised patients. • There are uncertainties about the best antibiotic treatment and its duration. • Validation and use of molecular methods can improve diagnosis and therapy outcomes. Cutaneous bacillary angiomatosis (cBA) is a vascular proliferative disorder due to Bartonella henselae or Bartonella quintana that has been mostly described in people living with HIV. Since cBA is considered to be rare in hosts not affected by major immunosuppression, it could be underdiagnosed in this population. Moreover, antimicrobial treatment of cBA has been poorly validated, thus reporting experiences on this clinical entity is important. We reported a challenging and well-characterized case of an Italian 67-year-old gentleman without a history of major immunocompromizing conditions, although he was affected by conditions that can be associated with impaired immune function. The patient reported herein was diagnosed after a long time since the initiation of symptoms and was successfully treated with combined antibiotic therapy including macrolides and quinolones under the guidance of molecular test results. Physicians should consider cBA as a possible manifestation of Bartonella spp. Infection in patients not suffering from major immunocompromizing conditions. Until evidence-based guidelines are available, molecular tests together with severity and extension of the disease can be useful to personalize the type of treatment and its duration. [ABSTRACT FROM AUTHOR]

Familial glomangiomatosis is a rare autosomal dominant vascular malformation caused by a mutation in the glomulin GLMN gene. It is characterized by the appearance of multiple glomus tumors composed of dysmature veins surrounded by glomus cells. We present a case of an 11-year-old girl with familial glomangiomatosis successfully treated with Nd:YAG long-pulse laser. Three sessions of laser treatment were performed, resulting in more than 80% reduction of the lesion and complete disappearance of pain, with no adverse effects reported. This case report demonstrates the excellent risk-benefit ratio of Nd:YAG long-pulse laser in the treatment of familial glomangiomatosis. [ABSTRACT FROM AUTHOR]

Giant congenital melanocytic nevi (GCMN) can be cosmetically significant and can lead to melanoma. There is no standard pharmacologic treatment for GCMN. We present the case of an 8‐year‐old female with kaposiform lymphangiomatosis caused by an NRAS mutation whose nevus spilus‐type GCMN improved on oral selumetinib. [ABSTRACT FROM AUTHOR]