Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis

Epidermal nevus syndrome (ENS) is a congenital disorder characterized by widespread linear epidermal lesions consisting of epidermal nevus and extracutaneous involvements, especially of the central nervous system and skeletal system. Garcia–Hafner–Happle syndrome, also known as fibroblast growth factor receptor 3 (FGFR3)-ENS, is characterized by a systematized keratinocytic EN of soft and velvety type with neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy. We present a case of a 9-year-old Japanese boy afflicted with Garcia–Hafner–Happle syndrome associated with dwarfism and atopic dermatitis. We show the results of physical examination, DNA analysis, and imaging studies and discuss the mutation underlying the child’s disorder.

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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

Journal of Neurosurgery ◽

10.3171/jns.2000.92.4.0631 ◽

2000 ◽

Vol 92 (4) ◽

pp. 631-636 ◽

Cited By ~ 51

Author(s):

Dominique Renier ◽

Vincent El Ghouzzi ◽

Jacky Bonaventure ◽

Martine Le Merrer ◽

Elizabeth Lajeunie

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Dna Analysis ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Recurrent Point ◽

Content Type ◽

Coronal Synostosis ◽

Fine Print

Object. A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients.Methods. A DNA analysis was performed in 103 children suffering from apparently isolated coronal synostosis, 41 of whom had bilateral and 62 of whom had unilateral disease. There were 31 boys and 72 girls in the study group. Sixty cases were sporadic and 43 were familial; the 43 familial cases arose in 33 unrelated families. The mutation was found in seven (12%) of 60 sporadic cases and in 24 (73%) of the 33 families. The functional and morphological results were assessed in all surgically treated patients who had at least 1 year of follow up and who were at least 3 years of age at the time of assessment. A comparison was made between patients with the mutation and those without.Conclusions. The most typical presentation was seen in girls and consisted of a bicoronal synostosis resulting in a severe brachycephaly associated with mild hypertelorism and marked bulging of the temporal fossae, which resulted in a huge enlargement of the upper part of the face. The most frequently associated extracranial anomaly was brachydactyly, identified either clinically or radiologically. Based on the proportion of bilateral and unilateral coronal synostoses, the present data indicate that the mutation is associated with more severe cases and that girls with the mutation are more severely affected than boys. The functional and morphological results were worse in patients in whom the mutation was present as compared with those in whom it was not.

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Fibroblast Growth Factor Receptor 4

10.32388/xtxa2z ◽

2020 ◽

Author(s):

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth

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Mills' syndrome. A clinical case of a rare degenerative pathology of the central nervous system

Spravočnik vrača obŝej praktiki (Journal of Family Medicine) ◽

10.33920/med-10-2004-07 ◽

2020 ◽

pp. 57-60

Author(s):

Konstantin Gulyabin

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Neurological Diseases ◽

Cortical Atrophy ◽

Primary Lateral Sclerosis ◽

System A ◽

The Central Nervous System ◽

Primary Lateral ◽

Lateral Sclerosis ◽

Mills Syndrome

Mills' syndrome is a rare neurological disorder. Its nosological nature is currently not completely determined. Nevertheless, Mills' syndrome is considered to be a rare variant of the degenerative pathology of the central nervous system – a variant of focal cortical atrophy. The true prevalence of this pathology is unknown, since this condition is more often of a syndrome type, observed in the clinical picture of a number of neurological diseases (primary lateral sclerosis, frontotemporal dementia, etc.) and is less common in isolated form.

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