Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.

BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events. CASE PRESENTATION: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg. CONCLUSION: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.

Anesthetic Management of a Patient With Arterial Tortuosity Syndrome Undergoing Cerebral Revascularization Surgery-A Case Report.

Arterial tortuosity syndrome is a rare hereditary autosomal recessive connective tissue disorder characterized by elongation and tortuosity of the large- and medium-sized arteries. We present the case of a 13-year old child with arterial tortuosity syndrome who underwent occipital encephaloduroarteriomyosynangiosis for posterior circulation insufficiency. The constellation of clinical features in our patient portended significant anesthetic concerns, including difficult airway due to craniofacial abnormalities, risk of stroke, and myocardial infarction due to intracerebral and coronary arterial tortuosity and stenosis. The pertinent anesthetic implications are summarized, and we describe the anesthetic technique and use of multimodal neuromonitoring relevant for the case.

Fractional Erbium-Doped Yttrium Aluminum Garnet Laser in the Treatment of Primary Cutaneous Amyloidosis.

BACKGROUND: Although various treatments are currently available for primary cutaneous amyloidosis (PCA), there is no entirely satisfactory treatment. Recently, fractional ablative lasers are claimed to have therapeutic effects for PCA. OBJECTIVE: To evaluate the efficacy and safety of fractional Er:YAG laser for the treatment of PCA. METHODS AND MATERIALS: Ten patients with macular and lichen amyloidosis received 4 treatment sessions with 4-week intervals. The outcome was assessed clinically (degree of pigmentation, rippling, lichenification, and itching) through photographs and histologically (amount of amyloid, melanin, epidermal thickness, and depth of rete ridges) through biopsy specimens stained with hematoxylin-eosin, Congo red, and Fontana-Masson stain. Patients were followed up for 3 months after the final treatment. RESULTS: At 3-month follow-up, fractional Er:YAG laser exhibited a significant clinical and histological improvement. Patient satisfaction concurred with physicians' evaluations. Recurrence was detected in 1 patient. CONCLUSION: In light of the authors' findings, fractional Er:YAG laser offered a great clinical and histological efficacy with excellent safety profile. Careful laser selection based on making a compromise between efficacies and safeties may improve outcome.

Approach to treatment of refractory dissecting cellulitis of the scalp: a systematic review.

BACKGROUND: Dissecting cellulitis is a chronic inflammatory dermatosis that results in disfiguring and painful, purulent lesions. Treatment of patients with disease resistant to standard therapies, including intralesional or topical steroids or antibiotics, can be a dilemma for clinicians. METHODS: We performed a systematic review of the literature in November 2018 to find articles which presented treatment options and outcomes of patients who failed prior treatment with standard therapies. RESULTS: We identified 57 articles of interest, with 53 being case studies or series. Isotretinoin was the most often reported, but the response was limited. Biologics and laser therapy were used less often but demonstrated a better chance of remission. X-ray epilation and surgical excision demonstrated the best remission rates but can be complicated by serious morbidity. CONCLUSION: We propose a regimen for the treatment of recalcitrant cases of dissecting cellulitis. In the future, more robust studies including randomized control trials are needed to identify the preferred treatment options for refractory dissecting cellulitis.

The therapeutic effects of 1540-nm nonablative fractional erbium laser on macular amyloidosis: a randomized clinical trial.

OBJECTIVE: This aim of this study was to determine the effect of 1540-nm nonablative fractional erbium on macular amyloidosis. METHODS: This phase-II clinical trial study has been performed with parallel group with blinding of the evaluator. The skin lesions of the patients (15 patients and 30 lesions) with cutaneous macular amyloidosis were randomly assigned into laser and no-treatment groups. In the laser group, treatment was performed by 1540-nm nonablative fractional erbium laser. Thereafter, the patients' lesions were compared in terms of pigmentation, rippling, thickness, and subjective response. RESULTS: The lesions of the intervention group significantly improved in the three-month follow-up compared to the control group (in the control and intervention group, improved pigmentation was observed in 20 and 53.3% with p = .02, improved rippling in 6.7 and 60% with p = .007, diminished lichenification in 0 and 53.1% with p = .007, and overall lesion improvement in 20 and 60% with p = .03, respectively). In investigating the subjective response through patient global assessment, the patients in the intervention group had a greater satisfaction (p = .01). There was a considerable improvement of pruritus in the intervention group (p = .001). CONCLUSIONS: Use of 1540-nm nonablative fractional erbium laser offered a suitable efficacy to treat macular amyloidosis without significant complications.

Dealing with kinked and swirled pulmonary vessels: surgical treatment of arterial tortuosity syndrome: a case report.

We present the case of a child with arterial tortuosity syndrome, describing the operative findings and our surgical technique to address pulmonary arteries stenosis.

Osteonevus of Nanta: a case report in a combined melanocytic nevus

Abstract Secondary osteoma cutis is a phenomenon that may occur in several conditions. When it occurs in a melanocytic nevus it is named osteonevus of Nanta, an event considered uncommon and characterized by the presence of bone formation adjacent or interposed with melanocytic cells. There are reports of its occurrence in various melanocytic lesions, being more frequently associated with intradermal nevus. We report a case of osteonevus of Nanta in combined nevus, possibly the first description of this association.

Photodynamic therapy combined with dermatosurgical approach for Perifolliculitis Capitis Abscedens et Suffodiens.

Perifolliculitis capitis abscedens et suffodiens (PCAS) is a rare, chronic, suppurative and inflammatory scalp disease with aetiology and pathogenesis not completely understood. The treatment of PCAS usually represents a challenging problem with frustrating outcome (1). Photodynamic therapy (PDT) is an approach considered to be useful to treat tumors, bacterial and fungal infections (2-4). We report 9 cases of patients who suffered from PCAS in varying degrees. Photodynamic therapy combined with surgery were used in these cases and the results were satisfactory. In conclusion, photodynamic therapy may provide a new way to treat PCAS.

Osteonevus of Nanta: a case report in a combined melanocytic nevus.

Secondary osteoma cutis is a phenomenon that may occur in several conditions. When it occurs in a melanocytic nevus it is named osteonevus of Nanta, an event considered uncommon and characterized by the presence of bone formation adjacent or interposed with melanocytic cells. There are reports of its occurrence in various melanocytic lesions, being more frequently associated with intradermal nevus. We report a case of osteonevus of Nanta in combined nevus, possibly the first description of this association.

A comparative study of the efficacy of fractional neodymium-doped yttrium aluminum garnet (Nd:YAG) laser therapy alone and in combination with erbium:YAG laser therapy: tracing and objective measurement of melanin index in macular amyloidosis.

Macular amyloidosis (MA) is a common form of primary localized cutaneous amyloidosis, characterized by the eruption of brown pigments of the skin with a rippled pattern. MA can be of cosmetic concern for patients, and its treatment is challenging. In this study, we aimed to find new effective approaches for MA treatment. A total of 39 patients with the clinical diagnosis of MA were treated with two types of laser therapy, and the effectiveness of each approach was examined. Fractional Q-switched 10.64 nm neodymium-doped yttrium aluminum garnet (Nd:YAG) laser therapy was compared with a combination of fractional Q-switched 10.64 nm Nd:YAG laser and long-pulsed fractional erbium:YAG laser therapy. Melanin biometric measurements were performed using a Mexameter, objective image-based evaluation was carried out, and the itching score and patient satisfaction were examined. Mexameter-based analysis showed that both types of laser therapy were effective in the treatment of MA, causing a significant decrease in the amount of melanin in the treated areas (P < 0.05). Also, combination of two types of laser therapy was significantly more effective than one type alone (P < 0.05). The itching score significantly decreased in patients undergoing a combination of laser therapies. Also, a positive correlation was observed between the amount of melanin and degree of itching in the treated areas. Moreover, analysis of patient satisfaction showed that more than 90% of patients had excellent satisfaction with combination laser therapy. The results confirmed the significant positive effects of both fractional Nd:YAG laser alone and in combination with fractional erbium:YAG laser therapy considering the reduction in melanin content; however, combination of two types of laser therapy was more effective than one type alone. Trial registration: IRCT20080901001159N23.

Cutaneous Nodular Amyloidosis: A Disfiguring Aspect of the Face.

Primary localized cutaneous nodular amyloidosis is a rare plasma cell dyscrasia in which an amorphous material consisting of light chain amyloid is produced and deposited in the dermis, with varied clinical presentation. We describe the case with unusual and tumor lush clinical presentation in the face with no progression to systemic disease and no evidence of extracutaneous commitment.

Full ablative versus fractional ablative laser therapy for Dowling-Degos disease.

Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis with limited treatment possibilities. Although the efficacy of ablative laser therapy has been reported, we sought to examine the efficacy of fractional versus full ablative laser therapy in a female patient with DDD in a split-side report. We treated the lesions on the right side of the patient's upper abdomen with an ablative fractional CO2 laser and the lesions on the left side of the upper abdomen with a full ablative Er:YAG laser (erbium-doped yttrium aluminium garnet laser) three times at monthly intervals. After three laser sessions, the lesions treated with the Er:YAG laser showed a complete response, whereas the fractional CO2 laser treatment was less effective. After the three treatments were performed, the right side of the patient's upper abdomen and portions of her lower abdomen and chest were also treated with the Er:YAG laser in full ablation mode with the same settings. After 1 year of follow up, there was no recurrence observed. Lasers Surg. Med. © 2018 Wiley Periodicals, Inc.

Cutaneous inflammation as a marker of malignant transformation in a patient with linear unilateral basaloid follicular hamartoma.

Basaloid follicular hamartoma is a rare, benign and superficial malformation of hair follicles, characterized histologically by epithelial proliferation of basaloid cells with radial disposition. It can be mistaken for basal cell carcinoma. Even though these hamartomas are considered benign lesions, malignant transformation has rarely been reported. We report the case of a 45-year-old healthy woman, with linear, unilateral basaloid follicular hamartoma which developed inflamed papules histologically suggestive of basal cell carcinoma. We believe that identification of local inflammation could be a clinical clue to guide us towards a malignant transformation of basaloid follicular hamartoma.

Obstetric Management of Loeys-Dietz Syndrome.

BACKGROUND: Loeys-Dietz syndrome is associated with arterial tortuosity and aortic dissection. Pregnancy may be a period of increased risk for aortic dissection. CASE: A 16-year-old primigravid girl was referred to our center with a family history of aortic dissection. Loeys-Dietz syndrome was suspected, and genetic testing confirmed the TGFß2 (c.988C>T) mutation. A cesarean delivery was performed at 36 weeks of gestation, with no cardiovascular complications. In this case, the uterine vessels were significantly tortuous; this may be an additional finding in Loeys-Dietz syndrome. CONCLUSION: Women with Loeys-Dietz syndrome warrant special consideration in obstetric management secondary to the risk for aortic dissection. It is recommended that a multidisciplinary team with knowledge about connective tissue disorders and expertise in aortic surgery coordinate maternal obstetric and cardiovascular care.