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Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Her BRBNS presents with hemangiomas involving multiple organs in the body including the brain, gastrointestinal (GI) system, and skin. This case highlights the importance of studying and understanding the association between BRBNS and TSC as it may lead to improved understanding

Cutaneous melanomas may demonstrate a variety of histopathological features and genetic abnormalities. Melanomas that arise in the setting of blue nevi, also known as “malignant blue nevus” or melanoma ex blue nevus (MBN), share similar histopathological and mutational profile with uveal melanoma. The majority of uveal melanomas show characteristic GNA11 or GNAQ mutations; additional BAP1 mutation or loss is associated with the highest risk for metastasis and worst prognosis. However, the significance of BAP1 loss in melanomas ex blue nevus remains unclear. We present a case of melanoma ex blue nevus arising from the scalp of a twenty-one-year-old female. The diagnosis was established on histopathological findings demonstrating a markedly atypical melanocytic proliferation with increased mitotic activity, necrosis, and a focus of angiolymphatic invasion. Immunohistochemical analysis demonstrated the absence of BAP1 nuclear expression within tumor cells. Next Generation Sequencing detected GNA11 Q209L mutation and BAP1 loss (chromosome 3p region loss), supporting the diagnosis. We reviewed another twenty-one MBN cases with reported BAP1 status from the literature. MBN with BAP1 loss presented at a younger average age (41 years versus 61 years), demonstrated larger average lesion thickness (9.0 mm versus 7.3 mm), and had a higher rate of metastasis (50% versus 33%) compared with BAP1-retained MBN. BAP1 expression studies may assist in the diagnosis and management of MBN, but further research is needed.

Carney complex (CNC) is a rare familial multi-neoplastic syndrome predisposing to endocrine and non-endocrine tumors due to inactivating mutations of PRKAR1A leading to perturbations of the cAMP protein kinase A (PKA) signaling pathway. Skin lesions are the most common manifestation of CNC, including lentigines, blue nevi and cutaneous myxomas, in unusual locations such as oral and genital mucosa. Unlike endocrine disorders, the pathogenesis of skin lesions remains unexplained. Here, we show that embryonic invalidation of the Prkar1a gene in Steroidogenic Factor-1-expressing cells, leads to the development of familial skin pigmentation alterations reminiscent of those in patients. Immunohistological and molecular analyses coupled with genetic monitoring of recombinant cell lineages in mouse skin, suggest that familial lentiginosis and myxomas occurs in skin areas specifically enriched in dermal melanocytes. In lentigines and blue nevi-prone areas from mutant mice and patients, Prkar1a/PRKAR1A invalidation occurs in a subset of dermal fibroblasts capable of inducing, under the influence of PKA signaling, the production of pro-melanogenic EDN3 and HGF signals. Our model strongly suggests that the origin of the typical CNC cutaneous lesions is the result of non-cell-autonomous pro-melanogenic activity of a dermal fibroblast population sharing a community of origin with SF-1 lineage.

Bean syndrome or blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by venous malformations (VM) of the skin, soft tissues and visceral organs, most frequently affecting the gastrointestinal (GI) tract. BRBNS is mainly sporadic but can be inherited in an autosomal pattern. The most common symptoms are GI bleeding and secondary iron deficiency anemia. Treatment is largely symptomatic.

BackgroundPrimary orbital melanoma is a rare disease and can occasionally develop from a pre-existing neoplasm of the blue naevus family of melanocytic lesions.Case presentationHerein we report a rare case of primary orbital melanoma arising from an unusual atypical diffuse (plaque-like) blue naevus/melanocytosis. A 27 year old man presented with mild pain and swelling of the left eye. Magnetic Resonance Imaging revealed a left lateral episcleral orbital mass and an incisional biopsy confirmed the diagnosis of malignant melanoma. Skin-sparing total left orbital exenteration was performed. Histopathological examination of the exenteration specimen revealed a primary orbital melanoma arising in a pre-existing blue naevus like melanocytosis.We demonstrate the evidence for histological progression, characterise the molecular profile of this tumour and discuss the related literature.ConclusionsThis case emphasises the importance of a meticulous clinicopathological correlation in recognising such a tumour as a primary orbital melanoma rather than a metastasis, which is managed differently.

Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic syndrome characterized by venous malformations usually found in the skin and visceral organs. To date, 11 case reports describing BRBNS during pregnancy have been published. To our knowledge, this is the first report describing intracranial, airway, epidural, and birth canal involvement of venous malformations in the same parturient. Key lessons learned include clinical presentation, workup, team management, and care of obstetric patients with this disorder.

Pigmented epithelioid melanocytoma is a rare, newly described melanocytic tumor that encompasses lesions previously classified as animal type melanomas and epithelioid blue nevus of the Carney complex. Pigmented epithelioid melanocytoma is a specific clinicopathological entity with particular clinical presentation and histological features. We present the case of a 5 year old female patient with a heavily pigmented papule on her right thigh that showed histological findings compatible with pigmented epithelioid melanocytoma and discuss the relevance /clinical significance of sentinel lymph node biopsy as a staging procedure in this particular neoplasm.

Abstract: Pigmented epithelioid melanocytoma is a rare, newly described melanocytic tumor that encompasses lesions previously classified as animal type melanomas and epithelioid blue nevus of the Carney complex. Pigmented epithelioid melanocytoma is a specific clinicopathological entity with particular clinical presentation and histological features. We present the case of a 5 year old female patient with a heavily pigmented papule on her right thigh that showed histological findings compatible with pigmented epithelioid melanocytoma and discuss the relevance /clinical significance of sentinel lymph node biopsy as a staging procedure in this particular neoplasm.

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition with characteristic vascular malformations of the skin, most frequently lesions of the gastrointestinal tract and central nervous system, and less often, the musculoskeletal system. We report a 5-year case of BRBNS complicated with pathological femoral fracture that was successfully treated with sirolimus.We report the case of a 1-week-old girl with a diagnosis of BRBNS who had multiple venous malformations over her body. She also presented with right lower-limb swelling and complicated with a pathological femoral fracture.BRBNS with the complication of pathological femoral fracture.Treatment with low-dose sirolimus as an antiangiogenic agent was administered, combined with hip spica protection.The vascular lesion was reduced after about 6 months and the fracture site had healed around 2.5 years after initiation of sirolimus therapy. There were no drug adverse effects at the 5-year follow-up point. The patient showed excellent spirit and no obvious sequelae were found.To the best of our knowledge, this is the first report of the successful use of sirolimus in a patient with a pathological femoral fracture related to BRBNS complications.

Background: Combined blue nevi (CBN) may mimic melanoma and are relatively often biopsied for diagnostic reasons. Objective: To better characterize CBN and to compare it with melanoma. Methods: We collected clinical and dermatoscopic images of 111 histologically confirmed CBN and contrasted their dermatoscopic characteristics with 132 partly blue coloured melanomas. Furthermore, we compared the accuracy of human experts using pattern analysis with a computer algorithm based on deep learning. Results: Combined blue nevi are usually flat or slightly elevated and, in comparison with melanoma, more frequent on the head and neck. Dermatoscopically, they are typified by a blue structureless part in combination with either brown clods (n=52, 46.8%), lines (n=28, 25.2%) or skin-coloured or brown structureless areas (n=31, 27.9%). In contrast with melanoma, the blue part of CBN is more often well defined (18.9% vs. 4.5%, P&nbsp

To study the clinical effect of oral sirolimus in the treatment of children with blue rubber bleb nevus syndrome (BRBNS) in the gastrointestinal tract, a retrospective analysis was performed on the clinical data and follow-up results of two children with BRBNS treated by sirolimus. The two children with BRBNS had gastrointestinal bleeding and anemia and were treated with sirolimus at a dose of 1 mg/day as part of treatment. The plasma concentration of the drug was maintained between 2.5-12.0 ng/mL. The children showed disappearance of gastrointestinal bleeding and improvements in anemia and coagulation function, and blood transfusion could be stopped during treatment, with no obvious adverse drug reactions. PubMed, Wanfang Data, and CNKI were searched for related articles on sirolimus in the treatment of BRBNS. A total of 26 cases of children with BRBNS, aged 0-18 years, were obtained. With the addition of the 2 cases in this study, sirolimus treatment achieved a satisfactory clinical effect in all 28 cases. Sirolimus may be effective and safe in the treatment of children with BRBNS, and further prospective studies are needed to evaluate the long-term efficacy of this drug.

PURPOSE: To review the clinical features and treatment-associated outcomes of primary orbital melanoma among cases reported in the literature and to present a case treated with orbital exenteration and post-operative radiotherapy. METHODS: Case reports and case series on primary orbital melanoma published in the literature between 1980 and 2020 were reviewed. Data collected included patient demographics, presenting ocular symptoms, diagnostic imaging, histology, management, and outcomes. RESULTS: Eighty-eight cases of primary orbital melanoma were reviewed. The average age at presentation was 45 years and 58% of patients were male. The most common presenting symptoms and signs were proptosis (73%), decreased visual acuity (32%), pain (14%), diplopia (15%), and palpable mass (9%). Imaging frequently showed a well-circumscribed enhancing lesion. Diagnosis was made by histology in all cases, and orbital blue nevus was identified in 42%. In the majority of cases, treatment consisted of orbital exenteration (54%) or excision (38%). Adjuvant radiotherapy was given in 47% of cases. For the 72 patients with reported outcomes, 36% had metastases, 15% had local recurrence, and 32% died of metastatic disease. Patients who received surgery and radiotherapy had improved survival compared to those who received surgery alone (p = .01). There was no difference in survival between those who underwent orbital exenteration or excision (p = .16). CONCLUSIONS: Primary orbital melanoma is a rare malignancy and should be considered in patients with a history of unilateral proptosis and a well-defined orbital mass on imaging. Surgery remains the mainstay of treatment. Adjuvant radiotherapy may improve patient survival.

AimBlue nevus (BN) is a benign melanocytic proliferation that is typically cutaneous. Extracutaneous BN is infrequent and is reported in the mucosa of various organs. Gastrointestinal (GI) tract BN is rare. Here, we describe the clinicopathological findings of the largest series of GI tract BNs.MethodsA search of our Pathology Data System (1984–2019) identified six GI tract blue nevi. Clinical information, pathology reports and available H&E-stained section slides were reviewed.ResultsLesions predominated in the middle-aged adults (mean 54, range 27–80) with a slight female predominance (66%). Most cases arose in the rectum and colon (83%), with one gastric lesion (17%). Four cases were identified during endoscopic examination performed either for screening or for unrelated symptoms (66%). Two patients presented with rectal bleeding (33%) unassociated with the BN. Endoscopically, most lesions appeared as superficial hyperpigmented areas (83%). One case was described as abnormal mucosa (17%). Microscopically, the mucosa was involved in all of the cases (100%). One case showed submucosal extension in addition to the mucosal component (17%). Lesions showed a proliferation of bland spindle cells with abundant granular pigment. No nuclear atypia or mitoses were identified. Immunostains showed immunoreactivity for melanocytic markers. Follow-up information available for five patients showed no recurrences to date (mean follow-up 1 year).ConclusionsBN is a benign melanocytic proliferation. It is important to be aware of the occurrence of such lesions outside of the skin and consider the possibility of BN when pigmented lesions are encountered in the GI tract.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is an extremely rare disorder characterized by multifocal venous malformations involving various organs such as the skin and gastrointestinal tract. Severe complications of BRBNS, such as intussusception, volvulus, and intestinal infarction are rarer and require surgery. This report describes a 33-year-old male of BRBNS complicated with intussusception that was successfully diagnosed and treated with surgery. Patient concerns: A 33-year-old Chinese man presented with persistent, colicky pain accompanied by nausea, abdominal distension, and dizziness. The patient presented with sporadic bluish nodules on his skin involving his head, neck, thorax, abdomen, and planta pedis. Diagnoses: BRBNS with the complication of intussusception. Interventions: An emergency laparotomy was performed, and postoperative management included blood transfusions and oral iron supplementation for 2 weeks. Outcomes: The patient's postoperative course of hospitalization was uneventful. During the 4-month follow-up, the patient showed no signs of intussusception recurrence. Lessons: Patients diagnosed with BRBNS who present with acute abdominal pain and distension should raise suspicion for the presence of intussusception, which requires emergent surgical intervention.

Background Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disease characterized by multifocal venous malformations. It remains a considerable challenge in treating the gastrointestinal (GI) venous malformations due to multiple lesions throughout the GI tract, and the likelihood of recurrence. We report a case study of BRBNS in the GI tract, in which GI venous malformations and related GI bleeding were successfully treated with a combination of multiple endoscopic procedures. Case presentation A 17-year-old man was admitted to our hospital for dizziness and hypodynamia. The symptoms persisted for nearly 1 year. The laboratory tests revealed iron-deficiency anemia with abnormally low hemoglobin (Hb), and a strong positive fecal occult blood test. A total of four hemangiomas were detected: one in the stomach, one in the descending colon, and two in the small intestines with a high risk of hemorrhage. Under gastroendoscopy, enteroscopy, and video capsule endoscopy (VCE) throughout the GI tract, the patient underwent surgical treatment. Endoscopic mucosal resection was initially performed in the stomach and colon, and the lesions in the small intestine were resected with laparoscopy auxiliaried by single-balloon enteroscopy (SBE), during which SBE assisted in identifying the lesions. The patient well-tolerated the procedures, and had a favorable prognosis. Conclusion The combination of single-balloon enteroscopy-assisted laparoscopy and endoscopic mucosal resection was effective for the present case, which could be considered for patients with similar clinical conditions.

We present the clinical and pathological aspects of a patient diagnosed with a very rare tumor, a blue nevus-like melanoma of the uterine cervix. The patient turned to our Service for a second opinion regarding a cervical polyp causing vaginal bleeding, polyp which has been excised in another Hospital and interpreted initially as a pleomorphic sarcoma. In the presentation, we emphasize upon the stages of solving a difficult diagnosis, pathological description and treatment of these rare, aggressive tumors with poor prognosis, which represent the fundamental precondition in order to formulate the best therapeutic strategy.

Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called ‘blue nevus-like melanoma’, which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations). In this study, we analyzed a large cohort (n=301) of various morphologic variants of blue nevi and related tumors including tumors diagnosed as atypical blue nevi (n=21), and blue nevus-like melanoma (n=12), screening for all gene mutations known to occur in uveal melanoma. Similar to published reports, we found the majority of blue nevi harbored activating mutations in GNAQ (53%) or GNA11 (15%). In addition, rare CYSLTR2 (1%) and PLCB4 (1%) mutations were identified. EIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n =3) of blue nevus-like melanoma, respectively). In sequencing data from a larger cohort of cutaneous melanomas, this genetic profile was also identified in tumors not originally diagnosed as blue nevus-like melanoma. Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. Future studies will need to further elucidate the prognostic implications and appropriate clinical management for patients with tumors harboring these mutation profiles.

Melanomas arising in association with a common or cellular blue nevus (MABN) comprise a relatively rare and heterogeneous group of lethal melanomas. Although GNAQ is known to be frequently mutated in common blue nevus, cellular blue nevus (CBN) and MABN and these malignant lesions present gross chromosome alterations harboring BAP1 mutations, little is known about other mutations that contribute to the development and progression of these neoplasms. Thus, the genetic profile of these tumors is important to increase the number of intervention and treatment modalities. Here, we characterized and genetically profiled two different sections of a rare MABN and two CBNs from three different patients. All of the samples harbored a GNAQ mutation, exhibited RAS pathway activation, and harbored additional mutations in genes associated with genomic instability and epigenetic regulation (KMT2C, FANCD2, ATR, ATRX, NBN, ERCC2, SETD2, and WHSC1). In addition, all neoplasms harbored mutations that directly or indirectly affected either the regulation or activation of the PI3K pathway (PIK3CA, NF1, INPP5B and GSK3B). Our results not only help understand the genetic complexity of these blue melanocytic lesions but provide a rationale to use the combination of PI3K/MTOR and MEK1/2 inhibitors against these types of tumors.

Blue nevi may display significant atypia or undergo malignant transformation. Morphologic diagnosis of this spectrum of lesions is notoriously difficult, and molecular tools are increasingly used to improve diagnostic accuracy. We studied copy number aberrations in a cohort of cellular blue nevi, atypical cellular blue nevi, and melanomas ex blue nevi using Affymetrix's OncoScan platform. Cases with sufficient DNA were analyzed for GNAQ, GNA11, and HRAS mutations. Copy number aberrations were detected in 0 of 5 (0%) cellular blue nevi, 3 of 12 (25%) atypical cellular blue nevi, and 6 of 9 (67%) melanomas ex blue nevi. None of the atypical cellular blue nevi displayed more than one aberration, whereas complex aberrations involving four or more regions were seen exclusively in melanomas ex blue nevi. Gains and losses of entire chromosomal arms were identified in four of five melanomas ex blue nevi with copy number aberrations. In particular, gains of 1q, 4p, 6p, and 8q, and losses of 1p and 4q were each found in at least two melanomas. Whole chromosome aberrations were also common, and represented the sole finding in one atypical cellular blue nevus. When seen in melanomas, however, whole chromosome aberrations were invariably accompanied by partial aberrations of other chromosomes. Three melanomas ex blue nevi harbored aberrations, which were absent or negligible in their precursor components, suggesting progression in tumor biology. Gene mutations involving GNAQ and GNA11 were each detected in two of eight melanomas ex blue nevi. In conclusion, copy number aberrations are more common and often complex in melanomas ex blue nevi compared with cellular and atypical cellular blue nevi. Identification of recurrent gains and losses of entire chromosomal arms in melanomas ex blue nevi suggests that development of new probes targeting these regions may improve detection and risk stratification of these lesions.

Described for centuries in the equines, especially gray horses, under the terminology of ‘equine melanotic disease’ and, subsequently recognized in non-equine animal models and in humans, particularly on non UV-exposed skin, animal-type melanoma, also known as pigmented epithelioid melanocytoma (PEM), is characterized by nodules and fascicles of epithelioid transformed melanocytes with pleomorphic nuclei and striking pigmentation, dendritic cells, numerous melanophages and, sometimes, lymphocytic infiltrate. Up today, only small series have been reported in humans and, therefore, its biological behavior remains unclear. Recently, some authors have supported that the tumor follows an indolent clinical course, with very low risk of spread beyond regional lymph nodes. Given the complexity of the matter, Elder and Murphy proposed a histological categorization of PEM and PEM-like lesions in: epithelioid blue nevus resembling PEM, strongly associated with the Carney complex; PEM, not associated with the Carney complex; tumoral melanosis mimicking PEM. A proper diagnostic framing is crucial in these controversial cases and a good histology in the hands of an expert dermatopathologist remains the most reliable diagnostic starting point. Moreover, a loss of expression of cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme encoded by the tumor-suppressor gene PRKAR1A, has been found in PEM, but not in common melanoma or other melanocytic lesions. Therefore, it appears to have a great diagnostic value in helping to distinguish PEM from PEM-like lesions, which mimic the former histologically.

A young man presented with blue nodules on the trunk, face, and extremities that gradually increased in number and size. His mother had similar lesions. Initially, blue rubber bleb nevus syndrome was suspected, but histological findings confirmed the diagnosis of hereditary glomuvenous malformations. Making the correct diagnosis spares the patient unnecessary evaluation for the arteriovenous malformations of the gastrointestinal tract associated with the former diagnosis.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multifocal venous malformations. Delayed diagnosis or misdiagnosis frequently occurs in patients without typical cutaneous lesions or gastrointestinal bleeding symptoms. This article reports a 10-year case of delayed diagnosis of BRBNS detected by capsule endoscopy. Patient concerns and diagnosis: A 15-year-old girl presented with refractory iron-deficiency anemia (IDA) for 10 years, without any hemorrhagic signs or noticeable cutaneous lesions, which led to her obvious physical growth retardation. Capsule endoscopic examination revealed dozens of vascular blebs distributed from the jejunum to the ileum and a site of active bleeding. Hence, she was diagnosed with BRBNS. Interventions: Laparotomy was performed with resection of the small bowel lesions, and iron supplementation was prescribed for 3 months. Postoperatively, the patient had an uncomplicated course. Outcomes: On follow-up after 3 years, IDA in this patient was cured and she did not require further blood transfusion and showed excellent vigor. Lessons: A high index of suspicion for BRBNS and adequate endoscopy examination will help to identify the origin of refractory IDA in older children, particularly in patients with vascular lesions of the skin.

PURPOSE: Blue nevus is a melanocytic tumor that has been commonly described in the skin. Extracutaneous presentations including the ocular surface are rare. As such, the purpose of this study was to characterize the clinical features and clinical course of the congenital melanocytic tumor (blue nevus) of the conjunctiva. DESIGN: Retrospective noncomparative case series PARTICIPANTS: 21 patients with 23 blue nevi of the ocular surface that were surgically excised between 2000–2016. METHODS: A chart review of patients identified from a database search of the Florida Lions Ocular Pathology Laboratory records. Pathological diagnoses were confirmed by two pathologists (SRD and GE). All specimens were bleached and tissue permitting, stained using SOX10 (MilliporeSigma, Darmstadt, Germany) and CD68 (Leica Biosystems, Nussloch, Germany). MAIN OUTCOME MEASURES: Clinical characteristics, pathological features, and clinical course. RESULTS: Mean age of the population was 55±15; 71.4% (n=15) were white and 57.1% (n=12) male. One patient had 3 lesions for a total of 23 lesions examined. Clinically, 13 lesions were on the bulbar conjunctiva, 3 on the tarsal conjunctiva, 3 in the fornix, 2 caruncular, 1 episcleral and 1 at the limbus. Pre-excision, 8 patients were thought to have primary acquired melanosis (PAM), 4 with concern for primary conjunctival melanoma, and 1 thought to have metastatic disease from a plantar melanoma. Five lesions were thought to be benign, and in 8 patients the lesions were identified incidentally after other ocular surgeries, with no pre-excision diagnosis of the lesions. Pathological features were consistent with simple blue nevi in 21 lesions and cellular blue nevus in 2 lesions. No malignant transformations were noted in any patient over the mean 20.2 months follow up period (range 2 weeks to 103 months). CONCLUSION: Blue nevus is a rare deeply pigmented congenital melanocytic lesion with a benign clinical course that can appear clinically similar to PAM or melanoma.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations. The gastrointestinal bleeding and secondary iron deficiency anemia are the most common complications. There are currently no effective treatments for BRBNS. Here, we report a case of successful treatment with a small dose of sirolimus of a BRBN patient with a de novo gene mutation. Patient concerns: A 12-year-old female was admitted to our hospital with multiple hemangiomas for 12 years. The patient often displayed melena; she recently received transfusion of 2 units of red blood cells once every 2 weeks. Multiple fist-sized hemangiomas were piled up on both sides and back of the neck, and were also noted on the arms, legs, chest, back, and on the tip of the tongue. The laboratory findings demonstrated severe anemia. Blood sample sequencing detected a heterozygous de novo mutation c.2545C > Tin the TEK gene. Diagnoses: Based on these findings, final diagnosis of Blue rubber bleb nevus syndrome (BRBNS) was made. Interventions: After the diagnosis, low-dose sirolimus was orally administered. Outcomes: The patient's hemoglobin was increased after treatment with sirolimus for 1 month. Since the initial treatment with sirolimus, she had not received any blood transfusions. The skin and mucosal hemangioma decreased significantly, and new digestive tract hemorrhage, muscle hematoma, or adverse drug reactions were not observed. Lessons: we report a case of a mutation in exon 15 of the TEK gene leading to BRBN. It was successfully treated with a small dose of sirolimus as an alternative to blood transfusion in order to save the of BRBN patient's life.