Cardio-Facio-Cutaneous Syndrome: Two Cases in the Same Generation
| Autor: | Hideyuki Ikeda, Hiroshi Okita, Atsushi Hatamochi, Soji Yamazaki |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Heart Septal Defects
Ventricular Male medicine.medical_specialty Depressed nasal bridge Erythema Fossa Hyperkeratosis Dermatology Intellectual Disability Humans Medicine Sex organ Hypertelorism biology business.industry Facies Alopecia Keratosis Syndrome General Medicine medicine.disease biology.organism_classification Pedigree Surgery medicine.anatomical_structure Hair loss Child Preschool Scalp medicine.symptom business |
| Zdroj: | The Journal of Dermatology. 32:909-913 |
| ISSN: | 0385-2407 |
| DOI: | 10.1111/j.1346-8138.2005.tb00870.x |
| Popis: | A 4-year-old Japanese boy, the youngest of three brothers, presented with ichthyosiform hyperkeratosis over his whole body, eczematous erythema with partial desquamation and erosion on the flexor side of the joints of extremities, the fossa axillaries, and the genital and buttock regions, and total hair loss on the scalp and the absence of eyebrows and eyelashes. In addition to the ichthyotic eruptions and hair abnormalities, he also had a ventricular septal defect, mental retardation, growth retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and ocular hypertelorism; therefore, he was diagnosed with cardio-facio-cutaneous (CFC) syndrome. The patient's family did not have a history of consanguineous marriage. The parents and the eldest son were healthy. However, the second son, also born with ichthyosiform hyperkeratosis over his whole body, total hair loss on the scalp, myocardial deficiency, mental retardation, growth retardation, and characteristic facial features, had died of pneumonia and sepsis at the age of 1.5 years. Because the middle brother had the same disease, the present case is considered to be a rare case of CFC syndrome with in a single generation. |
| Databáze: | OpenAIRE |
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