Herein, we describe a case of a 16-year-old male presenting with multiple CALMs and axillary freckling. A 16-year-old male presented to us with multiple hyperpigmented lesions predominantly on the left side of chest and back for the last 2 years. [journals.lww.com]

Legius syndrome presents as a mild neurofibromatosis type 1 (NF1) phenotype. Multiple café-au-lait spots and macrocephaly are present with or without axillary or inguinal freckling. [ncbi.nlm.nih.gov]

Clinical description The clinical presentation of Legius syndrome is very similar to that of NF1. [orpha.net]

Irregularly shaped depigmented spots can be present on the face, trunk and extremities. Typical CAL spots can be present. [medicaljournals.se]

The Masterclasses take place online approximately once a month, each on a different topic, and include real-time interaction between the expert presenter and the participants. [nervetumours.org.uk]

• Cafe-Au-Lait Spots

  CASE REPORT We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafe-au-lait spots and mild psychomotor difficult. Mother’s sister and grandfather have some cafe-au-lait spots. [neurologia.com]

  CASE REPORT: We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafe-au-lait spots and mild psychomotor difficult. Mother's sister and grandfather have some cafe-au-lait spots. [ncbi.nlm.nih.gov]

  On assessment he was noted to have multiple cafe-au-lait spots >5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother. The rest of his clinical examination was unremarkable. [pediatricneurology.conferenceseries.com]

• Axillary Freckling

  Consider the possibility of Legius syndrome, which can be confirmed by molecular genetic analysis, in patients with six or more café au lait macules and axillary freckling but none of the other classic features of NF1, urged Dr. [mdedge.com]

  NF6 was ruled out by the presence of axillary freckling. NF-6 is characterized by only multiple CALMs. [journals.lww.com]

  Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity. [medical-dictionary.thefreedictionary.com]

• Depigmented Skin Patch

  Piebaldism is a rare autosomal dominant condition that is characterized by depigmented areas of the skin and hair. Patients often have a white forelock of hair and depigmented skin patches in a specific pattern. [medicaljournals.se]

• Low-Set Posteriorly Rotated Ears

  Neonatal period: feeding difficulties and poor weight gain; distinctive craniofacial appearance, including hypertelorism, down slanted palpebral fissures, low-set posteriorly rotated ears, short neck with excess skin folds, low posterior hairline, coarseness [genomicseducation.hee.nhs.uk]

• Compulsive Disorder

  The patient had shown vocal and motor tics since the age of 7, without any changes in behavior or scholastic performance and without features of an associated obsessive-compulsive disorder or attention deficit hyperactivity disorder. [nature.com]

• Short Neck

  Neonatal period: feeding difficulties and poor weight gain; distinctive craniofacial appearance, including hypertelorism, down slanted palpebral fissures, low-set posteriorly rotated ears, short neck with excess skin folds, low posterior hairline, coarseness [genomicseducation.hee.nhs.uk]

  Other features shared between the two conditions include short stature, intellectual disability, lax joints, and head/neck features such as a highly arched palate, a short neck, a large forehead, and low-set ears. [forgottendiseases.org]

  Noonan syndrome : short size (40%-50%), facial dysmorphism (hypertelorism, antimongoloid palpebral fissures, ptosis, low-set and posteriorly rotated ears, etc.), short neck, cardiac abnormalities [50%-80%, pulmonary valve stenosis (20%-50%), hypertrophic [admerahealth.com]

  neck + + + + + +Pectus deformity + + + + + + + + +Cryptorchidism NA NA NA NA NA + +Skin changesKeratosis + + + + +Nevi/lentigines + + + + Caf-au-lait spots + Short stature2 SD + + + + + + + +>2 SD 1 SD + >1 SD Croonen et al. [docslide.com.br]

  Early recognition of the syndrome based on classical association of dysmorphic face, heart defect, short/ webbed neck, pectus and short stature is essential for starting GH therapy and for appropriate genetic counseling. [healthdocbox.com]

• Foot Drop

  Mononeuropathy occurring in childhood may present as facial nerve palsy or hand/foot drop. Multiple CALMs can be present in children with NF2, although usually there are fewer spots and they are smaller than in NF1. [medicaljournals.se]

• Mononeuropathy

  Mononeuropathy occurring in childhood may present as facial nerve palsy or hand/foot drop. Multiple CALMs can be present in children with NF2, although usually there are fewer spots and they are smaller than in NF1. [medicaljournals.se]

This delay can present a diagnostic challenge; it is often a difficult decision whether or not to pursue further workup for entities such as optic gliomas. [escholarship.org]

However, the molecular genetic workup can be performed in two steps: MLPA, followed by sequencing of the coding regions and splice sites (Grimm et al 2012). [healthdocbox.com]

• Legionella Pneumophila

  pneumophila Legionella pneumophilia Legionella wadsworthii legionellosis Legionnaire legionnaires disease Legionnaire's disease Legionnaires' disease legitimate medical practice legitimate relationship Legius syndrome legume legumelin legumen Legumes [medical-dictionary.thefreedictionary.com]

They will also help develop new, more effective treatments. [uzleuven.be]

[…] good with appropriate treatment. [en.wikipedia.org]

Prognosis Given the current knowledge of disease manifestations and complications, the prognosis for patients with Legius syndrome is considered to be very good. The documents contained in this web site are presented for information purposes only. [orpha.net]

We emphasize the relevance of the differential diagnosis of NF1 with respect to numerous complications to appear, with a better prognosis recently described entity as it is Legius syndrome. [neurologia.com]

[…] spots; +/- learning disabilities[2] Usual onset at birth Causes Mutations in the SPRED1 gene[3] Diagnostic method Clinical findings, Genetic test[4] Differential diagnosis neurofibromatosis type I (NF-1) Treatment Physical therapy, Speech therapy[2][1] Prognosis [en.wikipedia.org]

Etiology Legius syndrome is caused by heterozygous inactivating mutations in the SPRED1 gene (15q14), involved in regulation of the RAS-MAPK signal transduction pathway. Nearly 100 different mutations in this gene have been identified. [orpha.net]

Epidemiology. The prevalence of Legius syndrome is not known. Romanisio G, Chelleri C, Scala M, Piccolo G, Carlini B, Gatti L, Capra V, Zara F, Bersano A, Pavanello M, De Marco P, Diana MC. [operativeneurosurgery.com]

Summary Epidemiology The prevalence of Legius syndrome is not known. Fewer than 200 cases have been reported to date. Prevalence may be higher than expected due to misdiagnosis of cases as neurofibromatosis type 1 (NF1, see this term). [orpha.net]

Department of Pathophysiology and Transplantation, Pediatric Highly Intensive Care Unit, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. [unboundmedicine.com]

This novel mechanism for the regulation of neurofibromin provides a molecular bridge for understanding the overlapping pathophysiology of NF1 and Legius syndrome. [ncbi.nlm.nih.gov]

Pathophysiology Genetics It is caused by mutations in the SPRED1 gene.[2][3][4] Differentiating Legius syndrome from other Diseases Neurofibromatosis type 1 Features common in neurofibromatosis - lisch nodules, bone abnormalities, neurofibromas, optic [wikidoc.org]

Impairments are discussed to be one of the underlying pathophysiological mechanisms of developmental disorders. [thieme-connect.com]

Phacoemulsification may help prevent intraoperative and postoperative bleeding in patients with the syndrome. [popflock.com]

A dental examination should be performed early, and extensive preventive dental care is important. [socialstyrelsen.se]

[…] of Secondary Complications Age-appropriate developmental assessment and neuropsychiatric evaluations could potentially result in the initiation of therapies to prevent developmental and behavioral complications. [ncbi.nlm.nih.gov]

PREVENTION There is no way to prevent the disorder other than to offer prenatal diagnostic testing to those at 50% risk of passing NF1 to a child. [childneurologyfoundation.org]

In South Africa the Promotion of Equality and Prevention of Unfair Discrimination Act 2000 has numerous provisions for accessibility, in the UK, the Equality Act 2010 has numerous provisions for accessibility. [wikivisually.com]