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.

Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

Legius syndrome is a disorder of the RAS and mitogen-activated protein kinase (MAPK) pathway first described in 2007 by Eric Legius, et al., that has been considered a milder phenotype than reported in the RASopathy neurofibromatosis type 1 (NF1). However, with approximately 200 cases reported in the literature, the Legius syndrome phenotype remains to be fully characterized. We report a child who presented with moyamoya syndrome and who has Legius syndrome due to a pathogenic variant in SPRED1. Vascular complications such as moyamoya syndrome have been reported in NF1. However, this association has not been reported in Legius syndrome. This child's case may represent an expansion of the clinical phenotype of Legius syndrome, and further study is needed. We emphasize the importance of obtaining neuroimaging studies in patients with Legius syndrome who present with new neurologic deficits.

Retrospective photographic review of nontattoo indications treated by picosecond laser.

BACKGROUND: Picosecond (PS) lasers were approved by the US FDA in 2012 after being shown to remove tattoos with more success and fewer treatments compared with traditional methods. PS lasers were shown to be versatile, indicated for the treatment of lentigines, café-au-lait macules (CALMs), and acne scars and skin rejuvenation. OBJECTIVE: We report our experience treating our patients for different indications using a PS laser. METHODS: We performed a retrospective chart and photographic review of all patients seen between 2016 and 2018 that were treated in our centers with a PS laser for nontattoo indications. Clinical outcomes were evaluated using side-by-side comparisons of the clinical photographs by two blinded, independent physicians using a visual analog scale consisting of six levels of treatment response. RESULTS: A total of 233 patients were studied. Most sought treatment for solar lentigo (27%) and skin rejuvenation (14%). Epidermal nevi exhibited the greatest improvement with treatment, while acne scarring demonstrated the least. Only 24% of patients experienced noteworthy, transient adverse effects. CONCLUSION: Picosecond lasers were efficacious and safe for a variety of indications. They were effective in treating epidermal nevi and pigmented lesions, such as Lentigines and CALMs.

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities identified with near-infrared reflectance have reported with a frequency of up to 100% in NF1, and have been recently been proposed as a novel diagnostic criterion for NF1. Legius syndrome can be clinically indistinguishable from NF1 and results in a small percentage of individuals being misdiagnosed. We investigated the presence of choroidal abnormalities in Legius syndrome to determine their specificity to NF1 and their potential usefulness as a novel diagnostic criterion for NF1. We examined the fundus of 16 eyes by confocal scanning laser ophthalmoscopy with infrared monochromatic light in eight patients with molecularly confirmed Legius syndrome. No abnormalities were observed, confirming the diagnostic value of choroidal abnormalities for the diagnosis of NF1.

A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.

Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecular study of a Chinese patient with giant café-au-lait in NF1. The patient showed >6 café-au-lait spots on the body, axillary freckling, and multiple subcutaneous neurofibromas. He also had a malignant peripheral nerve sheath tumor and bone abnormalities. The germline mutational analysis of the NF1 gene revealed a novel missense mutation in exon 13. It is a novel heterozygous nucleotide G>A transition at position 2241 of the NF1 gene. We found no mutation in malignant peripheral nerve sheath tumor DNA from this patient. This expands the database for NF1 gene mutations in NF1. Its absence in the normal chromosomes suggests that it is responsible for the NF1 phenotype. To our knowledge, this is the first case of giant café-au-lait macule in NF1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.

Interesting medical images: the Jaffe-Campanacci syndrome.

Herein we report the clinical presentation and radiographic findings of a patient with a known history of multiple nonossifying fibromas, also known as the Jaffe-Campanacci syndrome, who presented with persistent pleuritic chest pain after a fall and was found to have a small pulmonary embolus. The presentation, pathophysiology and management of the syndrome are briefly discussed.

McCune-Albright syndrome: a case report in a male.

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a male patient with MAS having multiple café-au-lait macules and deforming polyostotic fibrous dysplasia involving long bones of the limbs, skull and spine without any endocrine abnormality. Severe bone deformities involving almost all bones have not been described previously and this prompted us to present the current case.

Image diagnosis in McCune-Albright syndrome.

McCune-Albright syndrome consists of polyostotic fibrous dysplasia, precocious puberty and cafè-au-lait skin lesions. Bone lesions are characterized by the presence of fibrous connective tissue with a characteristic whorled pattern and containing trabeculae of immature non-lamellar (woven) bone. They may be solitary (monostotic) or multiple (polyostotic). Commonly involved bones include the femur, tibia, ribs and facial skeleton. In the fibula pseudo-cystic areas and 'ground glass'-like areas, in the femur 'shepherd crook' deformation due to weight on a less resistant bone and secondary to many cortical microfractures, are typical. MRI gives the exact delimitation of the lesions and is especially indicated in the followup of monostotic forms and in the outcome of surgical corrections. Bone scintigraphy with technetium 99 is essential in the follow-up of the disease. Ultrasonography is very useful in ovarian cyst follow-up and in the detection of thyroid and adrenal nodules and testicular microlithiasis.

Imaging of McCune-Albright syndrome using bone single photon emission computed tomography.

UNLABELLED: McCune-Albright syndrome is a rare disorder caused by a somatic, constitutively activating mutation in the gene (GNAS1) encoding the subunit of the signal transducing guanine nucleotide binding protein (G protein). The condition is characterized by polyostotic fibrous dysplasia, cafe-au-lait pigmentation and multiple endocrine hyperfunction, most commonly gonadotropin-independent precocious puberty in girls. Our patient, a 16-year-old male, with radiologically confirmed polyostotic fibrous dysplasia in cranium, thoracic and pelvic girdles, spine and extremities was studied using planar 99mTc-hydroxymethyldiphosphonate bone scintigraphy and single photon emission computed tomography. Using bone scintigraphy, an unusually extensive and asymmetric fibrous dysplasia was observed in the cranium, face, ribs, femur, humerus, ulna, tibia and the vertebral column, all on the left side. The whole body scan revealed only a few foci on the right side. Single photon emission computed tomography demonstrated extensive unilateral involvement in the base of the skull, facial bones, maxilla and mandible. All the lesions reached only the midline. These findings formed the basis of further treatment, eg. reconstructive surgery of facial asymmetry. CONCLUSION: McCune-Albright syndrome should be considered in the differential diagnosis when interpreting extensive unilateral predominance in paediatric bone scans.