Unusual presentation of GLUT-1 positive infantile haemangioma

Infantile haemangiomas are usually not present at birth. This is a case of a female infant with an atypical congenital vascular tumour present at birth which ulcerated in the first few days of life, involuted over several months and showed histopathological features in keeping with either an involuting GLUT-1 positive infantile haemangioma or a reticular haemangioma of infancy. The initial clinical presentation was atypical for an infantile haemangiomas and for a congenital haemangioma, however the histopathology and immunohistochemistry assisted with confirmation of the diagnosis. Vacuum-assisted closure (VAC) therapy aided in the complete healing of the ulcerated infantile haemangioma which was not achievable with conventional dressings.     

Retrospective follow up of gross motor development in children using propranolol for treatment of infantile haemangioma at Sydney Children's Hospital

Questions have been raised as to whether propranolol, which crosses the blood‐brain barrier, when used early in life may have an adverse effect on gross motor development. A retrospective survey asking questions about gross motor development was sent to the families of children who had been prescribed oral propranolol for infantile haemangioma at Sydney Children's Hospital between 2008 and 2013. It was found that of the 84 patients surveyed, four were delayed in walking unassisted. There was a statistically significant influence if the child was taking other medications which included prednisolone, vincristine, omeprazole, ranitidine, salbutamol, Flixotide, Timoptol and antibiotics. This was not further analysed in this study because of the low numbers involved. There was no statistically significant influence of gestational age, birth weight or length of time on propranolol. This study adds to the retrospective data available; however large‐scale prospective studies are needed to identify unexpected long‐term side‐effects.     

Endothelial cells in infantile haemangiomas originate from the child and not from the mother (a fluorescence in situ hybridization-based study)

BACKGROUND: Infantile haemangiomas are benign vascular tumours of infancy of unknown origin. Their aetiological relationship to maternal cells has been questioned given that they develop during the neonatal period. OBJECTIVES: As endothelial cells in the placenta may be of maternal or fetal origin, we questioned whether vascular haemangioma cells originated from fetal or maternal tissue. METHODS: We aimed to detect, by using fluorescence in situ hybridization, maternal XX cells in the male XY tissue in four specimens of infantile haemangiomas obtained from boys. A sample of a female infantile haemangioma was used as a positive control and a male specimen of melanocytic naevus as a negative control. RESULTS: In one case of infantile haemangioma, a single XX female - probably maternal - cell was detected in the infantile haemangioma. All the other cells from this male as well as the three other informative specimens were uniformly negative for XX cell detection. CONCLUSION: Our results support the hypothesis that endothelial cells of infantile haemangiomas appear to derive from the child itself, in accordance with other studies.     

静脉曲张性骨肥大综合征1例

患儿女,5岁8个月。右下肢结节、静脉曲张5年,跛行4年。皮损主要分布于右下肢,表现为蚯蚓状隆起的曲张静脉、混合状的血管瘤以及右下肢的肥大增长,同时伴皮肤鱼鳞样改变。结合X线和B超检查诊断为静脉曲张性骨肥大综合征。根据患者临床表现选择治疗方案,如曲张浅静脉的结扎、剥脱术,局部血管瘤激光治疗等。     

透明细胞丘疹病57例临床特征分析

【摘要】 目的 总结透明细胞丘疹病的临床及病理特征。方法 收集重庆医科大学附属儿童医院皮肤科2014年11月至2022年3月诊断的57例透明细胞丘疹病患儿的临床资料,分析临床及病理特征。结果 57例患儿中,男30例,女27例;年龄6个月至7岁10个月;发病年龄1 ~ 74个月,39例（68.4%）于婴儿期发病;病程1 ~ 84个月。皮疹主要表现为粟粒至黄豆大小类圆形白色斑疹或1 ~ 2 cm短条状白色斑疹。49例（85.9%）皮疹数量 < 20个。好发部位依次为下腹部（35例,61.4%）、胸前或上腹部（34例,59.6%）、腋前或腋下（17例,29.8%）、外阴（11例,19.3%）。胸前或上腹部、腋前或腋下的皮疹以短条状白色斑疹相对多见［23/34例（65.7%）、10/17例］,下腹部皮疹以类圆形白色斑疹占明显优势［30/35例（85.7%）］,外阴皮疹都表现为类圆形白色斑疹。组织病理表现为表皮基底层或基底层上方散在的胞质丰富淡染体积稍大的细胞,这些细胞CK7阳性、癌胚抗原阳性和过碘酸希夫染色阳性。结论 透明细胞丘疹病患病年龄小,下腹部和外阴的皮疹大多是类圆形白色斑疹,胸前或上腹部、腋前或腋下的皮疹以短条状白色斑疹相对多见,有较强的临床识别特征。     

Small facial haemangioma and supraumbilical raphe—a forme fruste of PHACES syndrome?

We report two female infants with congenital midline supraumbilical raphes who subsequently developed haemangiomas on the lower lip and gingiva within the first 2 months of life. One was found to have a subglottic haemangioma during laryngoscopy. The infants were otherwise well and had normal chest X-ray, echocardiogram, cranial ultrasound, magnetic resonance imaging/angiography (head, neck, chest) and ophthalmological examination. Both received oral prednisolone 1-2 mg kg(-1) daily and four sessions of flashlamp pulsed-dye laser therapy to the lip lesions, with significant improvement. The initial presentation of these two infants with supraumbilical raphes, who were otherwise healthy and without other cutaneous stigmata, suggested the diagnosis of isolated congenital sternal malformation. However, lower lip and gingival haemangiomas developed 4-6 weeks later, consistent with the diagnosis of PHACES syndrome. Children with sternal malformation and haemangioma may also have intracranial and/or cardiovascular anomalies. All previously reported patients were females who had either craniofacial and/or multiple haemangiomas. We propose guidelines for the evaluation and management of a neonate presenting with a sternal fusion defect at birth.     

Acute hemorrhagic edema of infancy

An 11-month-old boy initially presented to an outside hospital with fever, rhinorrhea, swelling, and papular lesions involving the left foot. He was diagnosed with necrotizing fasciitis and he subsequently underwent debridement of the lower left leg. Tissue cultures were submitted and were negative. Histopathological examination revealed a subcutaneous leukocytoclastic vasculitis. The patient was then transferred to the University of California Davis Medical Center at which time he was noted to have erythematous nontender annular and targetoid patches and plaques with purpuric centers; the lesions were scattered over the legs, right foot, flanks, and pinnae. The clinical and histopathological findings supported a diagnosis of acute hemorrhagic edema of infancy. Supportive care was maintained and the lesions and associated edema resolved. Acute hemorrhagic edema of infancy is a form of leukocytoclastic vasculitis that, despite a rapid and dramatic onset, has a benign prognosis.     

Value of Doppler ultrasound scans in deciding whether to treat infantile haemangioma with oral propranolol

BackgroundOral propranolol (Pr) must be administered until the end of the proliferation phase of infantile haemangioma (IH). This phase may be difficult to assess, particularly where a deep component is involved. Doppler ultrasound scans (DUS), which identify vascular activity (VA), could assist the clinician in making the correct therapeutic decision (CTD).Patients and methodsAll children with IH treated with Pr for at least 3 months and up to the age of 9 months, and who also underwent DUS, were enrolled in this retrospective, single-centre, observational study. The quality of DUS as a binary diagnostic test for IH proliferation was assessed, together with its value in deciding whether to discontinue Pr (at the end of the presumed proliferation phase) or resume this drug (in the case of suspected recurrence).ResultsA total of 29 children were enrolled and 45 DUS were performed. Thirty-nine (87%) DUS were of high quality (80% sensitivity, 95% specificity) and made a major, moderate, or minimal contribution to the CTD in respectively 20%, 60% and 7% of cases.DiscussionDUS proved to be a high-value tool. They were essential in some cases of IH, mainly periocular and localised forms, and those involving deep components, in which the question of discontinuing Pr arose (age > 1 year) and where clinical examination had not been sufficient to make the CTD. Furthermore, in the vast majority of cases, they provide a helpful examination and complement clinical findings in terms of patient follow-up and reaching a CTD.ConclusionDUS is an effective and complementary tool to clinical investigation.     

A Case of Stasis Papillomatosis Associated with Psoriasis Vulgaris

A markedly obese, 41-year-old Japanese man who had suffered from psoriasis vulgaris for several years visited us with elephantiasis-like swelling of his lower legs of three months' duration. His right lower leg showed marked papillomatosis with thick scales, and the left lower leg was eroded and papillomatous. Although direct lymphography of his lower extremities showed no abnormality, indirect lymphography revealed local lymphatic damage in the involved skin. Histological examination showed hyperkeratosis, marked papillomatosis, proliferation of capillaries in the upper dermis, and lymphectasia in the lower dermis. The lesions were much improved by washing and topical use of corticosteroids for two months. It was suspected that obesity and the preceding psoriatic lesions caused local lymphatic disturbances, followed by the development of stasis papillomatosis.     

口服普萘洛尔治疗120例婴儿血管瘤的回顾性疗效分析

目的:评价口服普萘洛尔治疗婴儿血管瘤的疗效及不良反应。方法:对120例普萘洛尔治疗至少6个月以上的婴儿血管瘤患者的临床疗效和不良反应进行评价。结果:120例患儿服药3个月有效率为59.2%,6个月有效率为96.46%,82例停药时有效率为98.78%。不良反应的发生率为21.67%。结论:口服普萘洛尔治疗婴儿血管瘤疗效好、不良反应少且轻。     

Linear Morphea and Leg Length Discrepancy: Treatment with a Leg‐Lengthening Procedure

A 15‐year‐old Colombian boy with a 10‐year history of linear morphea presented to a pediatric orthopedic clinic with a leg length discrepancy. The morphea had been previously treated with methotrexate, oral and topical steroids, and topical vitamin D, but the lesion persisted, extending down the entire medial aspect of the left leg across the popliteal fossa. The patient had atrophy and growth retardation of the left leg, resulting in lower extremity bone and joint pain and a 3‐cm limb length disparity at maturity. The patient preferred left tibial lengthening to improve the limb length disparity.     

进行性交叉性偏侧萎缩症1例

患者男,25岁。左侧颌面部缓慢萎缩十余年,右侧头部皮肤萎缩变硬2年。皮肤科情况:患者左侧颌面部、舌肌、前胸及右下肢多处皮肤肌肉萎缩并变薄,肤色略深;右侧头顶颅骨略凹陷,头皮变薄,呈带状分布,延及右前额及右眼眶,触之皮革样硬,表面光滑,伴患处头发及眉毛脱落;右上臂内侧及左侧背部可见淡褐色片状斑块;右足拇趾明显短缩。皮损组织病理示:表皮略变薄,基底细胞层色素颗粒增多;真皮胶原纤维增生,部分均质化,真皮血管周围灶状淋巴细胞浸润。诊断:进行性交叉性偏侧萎缩症。     

Treatment of ulcerated haemangiomas with a non‐coherent pulsed light source: Brief initial clinical report

Background: Ulceration is the most common complication of infantile haemangiomas and constitutes an authentic therapeutic challenge because of associated pain, infection, haemorrhage and subsequent scarring. Objective: To report our experience with an intense pulsed light (IPL) system in the treatment of ulcerated haemangiomas. Methods: Case 1: A 4‐month‐old girl, with haemangioma affecting the entire cutaneous surface of the left limb, developed four ulcerations on the inner aspect of this extremity. Two sessions with an IPL system using a triple pulse mode, a 570‐nm lower cut‐off filter and a fluence of 38?J/cm² were performed. Case 2: A 5‐month‐old girl with ulcerated labial haemangioma that previously failed to respond to intralesional corticoids was treated with an IPL system device. Three sessions using a triple pulse mode with a 570‐nm lower cut‐off filter and a fluence of 48?J/cm² were realized. Results: Good results were rapidly obtained after two and four sessions of IPL treatment, respectively. Pain was soon relieved and complete epithelization was obtained by between 1 and 2 months in both patients. Conclusion: Although our experience is rare, we believe that IPL devices may be an effective alternative treatment of ulcerated haemangiomas.     

Generalized linear porokeratosis

A 23-year-old woman was seen for widespread skin lesions present since the age of 2.5 years. Twenty years ago, she developed a brown macular lesion on her right buttock. The lesion became hyperkeratotic and subsequently spread through the posterior aspect of her right leg. It later spread to the right side of the trunk and to the right arm. When she was 9 years old, she developed similar lesions on her left arm and leg. After she was 13 years old, no new skin lesions appeared. There was no family history of similar lesions. On examination, there were numerous linear and whorled, reddish-brown, hyperkeratotic plaques, with central atrophy and raised borders, following Blaschko's lines on all of the extremities. These lesions on the extremities extended to the dorsum of the hands and feet (Fig. 1). She had hyperkeratotic lesions on the pressure points of both of the soles, but no palm involvement. The number of lesions on the right side was greater than that on the left. Reddish-brown annular plaques with central atrophy and raised borders, appearing in zosteriform configuration, and numerous individual 2-3-mm erythematous lichenoid papules were observed on the right side of the thorax and the right inguinal region (Fig. 2). No face, scalp, or mucous membrane involvement was seen. The nails of the second and fifth fingers of the right hand and the nail of the third finger of the left hand showed nail dystrophy with longitudinal ridges and pterygium. All the nails of the right foot and the nails of the first and fifth toes of the left foot showed dystrophic changes with subungual keratosis. The patient was otherwise in good health. Two biopsy specimens taken from a hyperkeratotic plaque and a lichenoid papule showed an epidermal invagination with angulated parakeratotic tier, denoting cornoid lamella. The epidermis just underneath the cornoid lamella displayed vacuolization and the granular layer was absent. The adjacent epidermis was atrophic, and hydropic degeneration within the basal cell layer was seen. In the dermis, a nonspecific, mild, chronic, inflammatory cell infiltrate, telangiectatic vessels, and pigment-laden macrophages were present. These findings were consistent with linear porokeratosis (Fig. 3). Microscopic examinations and mycologic cultures of the nails were negative. We decided to treat our case systemically with retinoids, but the patient refused this therapy. So, topical tretinoin 0.05% was started once a day. A marked improvement was observed in hyperkeratosis through the first 4 weeks of treatment and plateaued at 8 weeks. After 10 weeks, the lesions had almost disappeared. We planned to continue the applications every other day. One year later, she remains stable with application of topical tretinoin 0.05% twice a week and is satisfied with the final appearance. She is under regular follow-up.     

NDRG1 and FOXO1 regulate endothelial cell proliferation in infantile haemangioma

The etiopathogenesis of infantile haemangioma has not been well understood, and it is accepted that angiogenic mediator dysregulation is the main contributor to the abnormal haemangioma capillary formation. The role of NDRG1, a hypoxia‐inducible protein; FOXOs, which are tumor suppressor proteins; and the mTOR complex 2 pathway in infantile haemangioma have not been studied yet. The purpose of this study was to investigate NDRG1 and FOXO1 expression in the infantile haemangioma and the correlation of these proteins with proliferation and involution. Primary endothelial cells were obtained, with parental agreement, from 12 infantile haemangioma patients during surgery; 6 patients had proliferating infantile haemangiomas and 6 had involuting IHs. We compared the infantile haemangioma tissues and primary endothelial cells with human vein endothelial cells using microarrays, real‐time PCR, Western blotting and immunohistochemical staining. Our data indicated that FOXO1 expression was downregulated in proliferating infantile haemangioma tissue. We found that the expression of NDRG1, a molecule upstream of the FOXO1 pathway, increased during haemangioma proliferation. NDRG1 knockdown decreased haemangioma endothelial cell proliferation and downregulated c‐MYC oncoprotein levels. Our findings suggest that NDRG1 positively regulates haemangioma proliferation. FOXO1 dysregulation plays an important role in infantile haemangiomas pathogenesis.     

Successful treatment of ulcerated haemangioma with propranolol

Background Ulceration is a frequent complication of proliferating haemangioma. Methods Four patients with ulcerated hemangioma aged 2, 4, 5 months and 5 weeks were treated with 2 mg/kg KG propranolol. Results Efficacy and safety of propranolol were excellent in all four cases. Conclusions Propranolol may be the first‐choice therapy for ulcerated haemangioma.     

外阴淋巴管瘤1例

患者女,53岁。外阴皮疹6月余。双侧大阴唇内、外侧散在分布粟粒至黄豆大红褐色群集性半透明蛙卵样丘疹,部分皮疹表面角化过度,似疣状。组织病理示:真皮浅层可见多数由单层内皮细胞组成的淋巴管囊样扩张。诊断:淋巴管瘤。     

Absent/reduced glucose transporter-1 protein expression in infantile subglottic haemangiomas

BACKGROUND: Positive immunohistochemical staining for glucose transporter-1 protein (GLUT1) is a characteristic of cutaneous infantile haemangiomas. OBJECTIVES: To examine GLUT1 expression in subglottic haemangiomas. METHODS: Review of clinical notes and biopsy tissue with immunostaining for GLUT1 in 14 patients with subglottic haemangiomas. RESULTS: GLUT1 immunostaining was negative in 11 cases, and focally positive in three. No subglottic haemangiomas demonstrated the intense diffuse positive GLUT1 staining seen in cutaneous infantile haemangiomas. Five patients had cutaneous as well as subglottic haemangiomas, one of whom had a GLUT1-negative subglottic haemangioma and a GLUT1-positive cutaneous haemangioma of the lip. CONCLUSIONS: Subglottic haemangiomas appear immunohistochemically different from cutaneous infantile haemangiomas, which may reflect differences in endothelial cell differentiation or underlying aetiology.     

Proteus syndrome

A 7‐year‐old girl presented with a history of wine‐colored tumoral lesions on her leg, right foot, abdomen, and back, present since birth. They bled easily on touch or on minimal trauma. Soft, skin‐colored tumors were also present on the pectoral and left axillary regions. All the lesions had increased in size gradually. Also, since birth, she had suffered from progressive enlargement of the feet, in the form of edema. The edema was soft and cold and did not decrease with rest. Over the last 5 years, the feet had been painful while walking. The lesions were pruritic on the legs. She had presented with pain, local heat, erythema, and an odiferous secretion on the periungual margins of both feet over the last year. Her mother reported that the patient presented occasional blood streaks in her stools. The patient was born by cesarean section, due to polyhydramnios. Her psychomotor development and school life were normal, except for a delay in walking (2 years). At the age of 2 years, tumors were excised from the right popliteal and axillary regions. She received blood transfusions six times, because of a persistent anemia. There was no family history of similar tumoral lesions. On physical examination at the first evaluation, she had violet–red maculae, with scattered small papules inside, located on the abdomen, left flank, and right leg ( Fig. 1 ). A 12 × 6 × 4‐cm tumor, which was soft, mobile, and slightly painful on palpation, was located on the right side of the back ( Fig. 2 ). Another verrucous tumor with an irregular surface was located on the distal third portion of the left leg. Papillomatous and exophytic lesions with an irregular surface were found on the left axilla ( Fig. 3 ) and perianal region. There were brown plaques with a rough surface distributed in longitudinal bands from the left hand, through the left arm to the left anterior–posterior side of the trunk, and on the left leg ( Fig. 1 ). A keloid scar was located on the right popliteal region. Multiple skin‐colored papules with a rough surface, were scattered over the thighs. On the fingernails of the left hand, the first four fingers had dystrophic nails, inversion of distal curvature, longitudinal streaks, and grayish pigmentation. On the feet, there was soft, white, cold, and depressible edema, with toes that were hypertrophic and increased in length. The first toes had periungual swollen and painful margins. Diminished muscular trophism prevailed on the arms. She had syndactyly of the second and third toes of the right foot, and third and fourth toes of the left foot ( Fig. 4 ). On the external genitals, there was a wine‐colored exophytic lesion on the labia minor. There was dorsal–lumbar scoliosis and varicose veins on the right leg.

Figure 1 Open in figure viewer PowerPoint Lesions on the legs     

A case of PHACE syndrome

A young girl with PHACE syndrome presented with a posterior fossa malformation, a segmental telangiectatic right facial haemangioma, a novel aortic arch anomaly, a congenital right fourth cranial nerve palsy (not previously described in this syndrome) and Horner's syndrome. Hydrocephalus was limited to the intrauterine period and detection of the cardiovascular anomalies was a direct result of recognition of this syndrome. She has received laser treatment for the haemangioma and is awaiting surgical correction of her cranial nerve palsy.