Female ; Humans ; Incontinentia Pigmenti ; diagnosis ; pathology ; therapy ; Infant, Newborn

Becker muscular dystrophy is a X-linked recessive disease with the affected gene at locus Xp21, characterized by progressive muscular weakness. Without the definite family history, it has been known that the diagnosis of this disease is almost impossible on clinical grounds alone. We reviewed the muscle pathology of two casses of genetically confirmed Becker muscular dystrophy to know the diagnositc significances of this study. The first case, a 20 year old man, is the classical one with definite family history of X-linked recessive heredity. The muscle pathology of the biceps showed dystrophic muscular changes, including increased internal nuclei, marked variation of fiber sizes and mild endomysial fibrosis. The dystrophin stain of the muscle was also confirmative for the diagnosis. The second case was a 32 year old man who has been biopsied his left vastus lateralis 5 years before this genetic diagnosis. This case is a sporadic one without the family history. The diagnosis at the time of muscle biopsy was limb-girdle muscular dystorphy or inclusion body myositis because of the typical rimmed vacuoles and marked variation of fiber sizes. The dystophin stain was not available at that time. Our conclusion is that the molecular genetic study and/or dystrophin protein test of muscle biopsy should be done in every clinically suspected patient, including limb-girdle muscular dystorphy, inclusion body myositis or rimmed vacuolar myopathies.
Adult ; Biopsy ; Diagnosis ; Dystrophin ; Fibrosis ; Heredity ; Humans ; Incontinentia Pigmenti* ; Molecular Biology ; Muscle Weakness ; Muscular Diseases ; Muscular Dystrophy, Duchenne ; Myositis, Inclusion Body ; Pathology ; Quadriceps Muscle ; Vacuoles ; Young Adult

Incontinentia pigmenti (IP) is a rare hereditary neurocutaneous syndrome characterized by typical linear hyperpigmentationed skin lesions, often associated with central nervous system (CNS) involvement, dysplasia in dental and skeletal system, and ocular abnormalities. Thirty to fifty percent of the patients suffer CNS complications such as mental retardation, seizures, spastic paralysis, microcephaly, and cerebellar ataxia. We experienced a case of incontinentia pigmenti in three-month-old female patient who had characteristic linear hyperpigmented skin lesion on both her thighs and partial seizure with secondary generalization. She had family history of typical skin lesions on her maternal relatives. She showed abnormal findings on EEG as well as multiple necrotic lesions on brain MRI. Confirm diagnosis of incontinentia pigmenti was made by skin biopsy.
Biopsy ; Brain ; Central Nervous System ; Cerebellar Ataxia ; Diagnosis ; Electroencephalography ; Female ; Generalization (Psychology) ; Humans ; Incontinentia Pigmenti ; Intellectual Disability ; Magnetic Resonance Imaging ; Microcephaly ; Muscle Spasticity ; Muscular Dystrophy, Duchenne* ; Neurocutaneous Syndromes ; Paralysis ; Pathology* ; Seizures ; Skin ; Thigh

Incontinentia pigmenti (IP) is an uncommon genodermatosis that usually occurs in female infants. It is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations. The aim of this study was to clarify clinical symptoms, accompanying diseases, and complications of IP. Forty cases of IP have been reviewed by their medical records, laboratory data, clinical photographs, and telephone survey. Male-to-female ratio was 1 to 19 and their onsets were mostly in utero. They were usually diagnosed during the neonatal period owing to their early expression of skin manifestation. Central nervous system anomalies were found in 46.7%. Ocular disorders and dental defects were detected in 66.7% and 72.7% respectively. The most commonly diagnosed anomalies were hypodontia, retinopathy, and seizure. For better understanding of IP, long term and close cooperation between dermatologists, pediatricians, neuroscientists, genentic counselors, and even dentists is crucial.
Stomatognathic Diseases/complications ; Skin Diseases/complications ; Male ; Magnetic Resonance Imaging/methods ; Korea ; Infant, Newborn ; Infant ; Incontinentia Pigmenti/*diagnosis/pathology ; Humans ; Female ; Eye Diseases/complications ; Eosinophilia/complications ; Child, Preschool ; Child ; Central Nervous System Diseases/complications