|LETTER TO EDITOR
|Year : 2018 | Volume
| Issue : 1 | Page : 86-88
Manoj Kumar Sharma, Ramesh Kumar, Savera Gupta, Suresh Kumar Jain
Department of Dermatology, Venereology and Leprology, Government Medical College, Kota, Rajasthan, India
|Date of Web Publication||28-Dec-2017|
Suresh Kumar Jain
Department of Dermatology, Venereology, Leprology, Government Medical College, Kota - 324 001, Rajasthan
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Sharma MK, Kumar R, Gupta S, Jain SK. Legius syndrome. Indian J Paediatr Dermatol 2018;19:86-8
Legius syndrome, also known as neurofibromatosis (NF) type 1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café au lait macules (CALMs) with or without axillary or inguinal freckling. Other NF1-associated features such as Lisch nodules, neurofibromas, NF1-specific bone lesions, optic pathway gliomas, and malignant peripheral nerve sheath tumors are absent. 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. The lesions increased gradually in number. Family history was positive for similar lesions in his mother. On cutaneous examination, the patient had multiple CALMs of approximately size 15 mm, predominantly over the left upper chest, back, and arm [Figure 1]. Furthermore, axillary freckling was present on the left side [Figure 2]. Other features of NF were analyzed. Lisch nodules in iris and neurofibroma were absent. Lisch nodules were examined on slit-lamp examination. Systemic examination revealed no abnormality.
Routine investigations including complete blood count, liver function tests, renal function tests, and electrocardiogram were normal. Computed tomography (CT) of head and neck was normal.
Other autosomal dominant diseases presenting with CALMs were excluded because of the lack of other associated manifestations. The NF1 was ruled out by the absence of Lisch nodules in iris, neurofibromas, and optic glioma on CT head. NF5 was ruled out by the absence of neurofibroma. NF6 was ruled out by the presence of axillary freckling. NF-6 is characterized by only multiple CALMs. Features of McCune-Albright syndrome More Details, characterized by multiple endocrinopathies, in particular precocious puberty and polyostotic fibrous dysplasia, were absent. The absence of lentigines ruled out LEOPARD syndrome More Details. Other features of LEOPARD syndrome are electrocardiography conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth, and sensorineural deafness. Based on clinical findings of multiple CALMs and axillary freckling along with the lack of other features of NF1, diagnosis of Legius syndrome was made.
Legius syndrome or NF1-like syndrome is a rare, autosomal dominant genetic skin pigmentation disorder. The clinical presentation of Legius syndrome is similar to that of NF1, characterized by multiple CALMs with or without axillary or inguinal freckling. Other NF1-associated features such as Lisch nodules, neurofibromas, NF1-specific bone lesions, optic pathway gliomas, and malignant peripheral nerve sheath tumors are absent. Additional clinical features have been reported in Legius syndrome: pectus excavatum,,, or carinatum and unilateral postaxial polydactyly., Lipomas can present in some individuals with Legius syndrome., Learning disabilities and behavioral problems are also possible manifestations of the disease. The differential diagnosis is shown in [Table 1].
The syndrome was first described in 2007 by Brems et al., who identified that a heterozygous mutation in SPRED1 gene was responsible for this mild NF phenotype. Several SPRED1 variants, including sequence-based changes and large deletions/duplications, have been linked to Legius syndrome.,
The case is being presented due to its rarity and only a few cases have been reported.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]