Pathogenesis and treatment of a giant occipital bone defect with meningoencephalocele in an NF1 child: case report and review of the literature.

Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients. However, calvarial bone defects are rare. After screening 324 articles, 23 cases (12 adult and 11 pediatric patients) of occipital bone defects in NF1 patients were selected. All patients had a single/multiple bone defect over the lambdoid suture. Adjacent benign plexiform neurofibromas were observed in 14 patients (60.8%, 7 adults and 7 children); one adult patient was diagnosed with neurofibrosarcoma. Meningoencephalocele over the occipital defect was noted in 8 cases (34.78%, all adults). Cranioplasty was performed in only 17.39% of patients. Histologic examination was performed in 7 of the 15 patients with associated neurofibromas/neurofibrosarcomas. Biopsy of the bone margins surrounding the defect was performed in only one case. Pathologic examination of the herniated parieto-occipital or cerebellar tissue was not performed in any of the patients studied. We report the case of a 9-year-old girl with NF1 and a significant occipital bone defect and performed a systematic review of the relevant literature to highlight the challenges in treating this condition and to investigate the underlying mechanisms contributing to bone defects or dysplasia in NF1.

Use of Reflectance Confocal Microscopy to Predict Treatment Efficacy in Café Au Lait Macules.

BACKGROUND: Multiple lasers have been used for the treatment of café au lait macules (CALMs) with various results. Objective tools to predict therapeutic efficacy of CALMs treatment is lacking. OBJECTIVE: To determine whether reflectance confocal microscopy (RCM) characteristics correlate with CALMs response to laser treatment. MATERIALS AND METHODS: All CAMLs underwent RCM examination of length and density of dermal papillae followed by 3 sessions of Q-switched alexandrite laser (QSAL). A visual analog scale was used to assess clinical treatment efficacy. RESULTS: Forty-three patients were included, 22 had CALMs with irregular borders and 21 with smooth borders. Café au lait macules with irregular border had shorter rete pegs and less papillae (p < .05) on RCM compared with smooth border CAMLs and responded better to QSAL treatment (2.32 vs 1.10). CONCLUSION: Reflectance confocal microscopy measurement of length and density of papillae were inversely correlated with treatment response. Reflectance confocal microscopy may be a useful tool to predict CALMs response to laser treatment.

Surgical Treatment of Polyostotic Craniomaxillofacial Fibrous Dysplasia Associated With Acromegalia: The McCune - Albright Syndrome.

INTRODUCTION: The McCune-Albright syndrome (MAS) is a complex congenital disorder caused by the embryonic post-zygotic somatic activating mutations in the GNAS1 gene. In such syndrome, phenotypes are heterogeneous and comprised polyostotic/monostotic fibrous dysplasia, café au lait macules, and hyperfunctioning endocrinopathies as the excess growth hormone. Likewise, acromegaly, as a manifestation of the endocrine hyperfunction, is unusual and affects about 20% of patients with MAS. CASE PRESENTATION: This research study describes a case of a 31-year-old female subject presenting polyostotic fibrous dysplasia with severe facial involvement, along with acromegaly and the MAS. The case was satisfactorily managed by surgical re-alignment and presented no clinical signs of relapse in a 12-year follow-up period. Finally, a literature review was conducted to discuss the standard protocols and the controversies when treating such cases. CONCLUSION: Patients with craniomaxillofacial fibrous dysplasia associated with acromegaly may present significant facial deformities that can be satisfactorily treated by cosmetic treatment, especially in patients with psychological problems and severe social acceptance.

Use of ultrasound-guided supraclavicular brachial plexus block as an anesthesia technique in a patient with neurofibromatosis type 1: A case report.

Neurofibromatosis type 1 is an autosomal dominant condition characterized by cutaneous and/or plexiform neurofibromas and hyperpigmented café-au-lait spots. It affects multiple endocrine and visceral organs and can be associated with several difficulties such as potential airway (ventilation/intubation) problems, abnormal spinal anatomy, and peripheral neurofibromas. Therefore, anesthesia technique selection becomes more of an issue in terms of avoiding complications and decreasing morbidity and mortality. In the present case, we describe the use of ultrasound and the successful performance of supraclavicular brachial plexus block for surgery on the arm and forearm in a patient with neurofibromatosis type 1.

Picosecond 532-nm neodymium-doped yttrium aluminium garnet laser-a novel and promising modality for the treatment of café-au-lait macules.

Café-au-lait macules (CALMs) present as benign hyperpigmented, well-circumscribed spots on the skin for which many patients seek treatment for aesthetic reasons. The objective of this study is to report our experience in treating CALMs using a picosecond 532-nm neodymium-doped yttrium aluminium garnet (PS 532 nm) laser. This is a retrospective case series of 16 patients with CALMs who were treated by a PS 532-nm laser (1-4 treatments, 4-8 weeks apart). Response as seen on clinical photographs was assessed by two independent dermatologists and graded on a scale of 0 (exacerbation) to 5 (95-100% improvement). Patient satisfaction and tolerance were documented at final visit. The results of 15 patients demonstrated significant improvement (average 3.43), and their satisfaction and tolerance levels were high. One patient had no response whatsoever to treatment. The PS 532-nm laser is a promising novel modality for the treatment of CALMs.

Response to Laser Treatment of Café au Lait Macules Based on Morphologic Features.

Importance: Response to laser treatment for café au lait macules (CALMs) is inconsistent and difficult to predict. Objective: To test the hypothesis that irregularly bordered CALMs of the "coast of Maine" subtype respond better to treatment than those of the smooth-bordered "coast of California" subtype. Design, Setting, and Participants: This retrospective case series included patients from 2 multiple-clinician US practices treated from 2005 through 2016. All patients had a clinical diagnosis of CALM and were treated with a Q-switched or picosecond laser. A total of 51 consecutive patients were eligible, 6 of whom were excluded owing to ambiguous lesion subtype. Observers were blinded to final patient groupings. Exposures: Treatment with 755-nm alexandrite picosecond laser, Q-switched ruby laser, Q-switched alexandrite laser, or Q-switched 1064-nm Nd:YAG laser. Main Outcomes and Measures: Main outcome was grade in a visual analog scale (VAS) consisting of 4 levels of treatment response: poor (grade 1, 0%-25% improvement), fair (grade 2, 26%-50% improvement), good (grade 3, 51%-75% improvement), and excellent (grade 4, 76%-100% improvement). Results: Forty-five patients were included in the series, 19 with smooth-bordered lesions and 26 with irregularly bordered lesions. Thirty-four (76%) of the participants were female; 33 (73%) were white; and the mean age at the time of laser treatment was 14.5 years (range, 0-44 years). Smooth-bordered lesions received a mean VAS score of 1.76, corresponding to a fair response on average (26%-50% pigmentary clearance). Irregularly bordered lesions received a mean VAS score of 3.67, corresponding to an excellent response on average (76%-100% clearance) (P < .001). Conclusions and Relevance: CALMs with jagged or ill-defined borders of the coast of Maine subtype tend to respond well to laser treatment, whereas those with smooth and well-defined borders of the coast of California subtype tend to have poor response. Clinicians using Q-switched or picosecond lasers to treat CALMs can use morphologic characteristics to help predict response and more effectively manage patient expectations.

Lasers.

Lasers are a very effective approach for treating many hyperpigmented lesions. They are the gold standard treatment for actinic lentigos and dermal hypermelanocytosis, such as Ota nevus. Becker nevus, hyperpigmented mosaicisms, and lentigines can also be successfully treated with lasers, but they could be less effective and relapses can be observed. However, lasers cannot be proposed for all types of hyperpigmentation. Thus, freckles and café-au-lait macules should not be treated as the relapses are nearly constant. Due to its complex pathophysiology, melasma has a special place in hyperpigmented dermatoses. Q-switched lasers (using standard parameters or low fluency) should not be used because of consistent relapses and the high risk of post-inflammatory hyperpigmentation. Paradoxically, targeting the vascular component of the melasma lesion with lasers could have a beneficial effect. However, these results have yet to be confirmed. In all cases, a precise diagnosis of the type of hyperpigmentation is mandatory before any laser treatment, and the limits and the potential side effects of the treatment must be clearly explained to patients.

The use of lasers in the treatment of cutaneous lesions.

INTRODUCTION: Laser has progressed significantly over the last three decades. Light amplification by stimulated emission of radiation (lasers) are currently employed by a number of medical and surgical specialties and used to treat a wide range of conditions. AIM: This article aims to provide an insight into laser science and describe its current usage in the treatment of cutaneous lesions and its potential for future developments. CONCLUSION: There are many types of lasers, each having unique properties that enable them to fulfil their task and achieve the desired result. Their applications will no doubt continue to expand with the parallel advancement in laser technology.

Laser treatment of congenital nevi.

Congenital nevi are benign proliferations present at birth that consist of cells normally present in the skin. Many of these lesions are disfiguring and a source of psychosocial impairment. Because of location or extent of the lesion, surgical excision of the nevus may leave a defect without favorable reconstructive options. Laser ablation of such lesions has been used by several clinicians. A review of laser terminology is presented along with a review of nevus of Ota, nevus of Ito, café-au-lait macules, lentigines, and congenital melanocytic nevi. Although good results may be achieved with laser ablation of these lesions, laser treatment modalities for congenital melanocytic nevi remain controversial because of the potential for malignancy.

The use of lasers and intense pulsed light sources for the treatment of pigmentary lesions.

Lasers and intense pulsed light sources are frequently used for the treatment of pigmented lesions, and the appropriate selection of devices for different lesions is vital to achieving satisfactory clinical outcomes. In dark-skinned patients, the risk of post-inflammatory hyperpigmentation is of particular importance. In general, long-pulse laser and intense pulsed light sources can be effective with a low risk of post-inflammatory hyperpigmentation (PIH) when used for the treatment of lentigines. However, for dermal pigmentation and tattoo, Q-switched lasers are effective, with a lower risk of complications. In the removal of melanocytic nevi, a combined approach with a long-pulse pigmented laser and a Q-switched laser is particularly applicable.

Long-term follow-up in treatment of solar lentigo and café-au-lait macules with Q-switched ruby laser.

A Q-switched ruby laser was used for treatment of 10 patients with solar lentigo and 12 patients with café-au-lait macules. In this study, the lesions were treated with the laser at a rate of 6 J/cm2. The patients were observed for 10-21 months with an average of 13.8 months after the final session. Solar lentigos were treated once or twice, and the response rate was 70%. Café-au-lait macules were treated one to six times, and the response rate was 33%. Side effects, such as hyperpigmentation and scar formation, were rarely seen. Therefore, Q-switched ruby laser treatment is an effective treatment for epidermal pigmented lesions; however, in patients with café-au-lait macules, the responses to the treatment varied, and a repigmentation was seen in 50% of these patients. Thus, long-term follow-up is required for patients with café-au-lait macules.

Treatment of cafe au lait macules with lasers. A clinicopathologic correlation.

BACKGROUND: Cafe au lait macules (CALMs) respond variably to treatment with different lasers. This study was done to determine whether the type of laser and the individual histologic features of the CALMs could predict clinical response to treatment. Nine CALMs were treated with both the frequency-doubled Q-switched neodymium: YAG laser (wavelength, 532 nm; beam diameter, 2.0 mm) and the Q-switched ruby laser (wavelength, 694 nm; beam diameter, 5.0 mm). Both lasers were used at a fluence of 6.0 J/cm2. Biopsy specimens of the CALMs were obtained before and after treatment. Clinical follow-up was done at 1-, 3-, and 6-month intervals. OBSERVATIONS: Both lasers yielded variable responses to treatment. Two histologic subtypes of CALMs were identified, but these different subtypes did not predict clinical outcome after laser treatment. CONCLUSIONS: Cafe au lait macules respond variably to treatment with both the Q-switched ruby laser and the frequency-doubled Q-switched neodymium:YAG laser. Further research might address the effect of using multiple treatments. In view of these results, clinicians using lasers to treat CALMs should inform their patients of the potential for recurrence or darkening of CALMs.