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| © 2001-2009, DermAtlas | Image Name: | osteopoikilosis_1_090619 | File Type: | jpg | |
| Diagnosis: | BUSCHKE-OLLENDORF SYNDROME / OSTEOPOIKILOSIS | Category: | Genetic Disorder / genodermatosis/genetic disorder / radiology | ||
| Body Site: | leg | Age: | 10 years | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | small densities in the femoral head | ||||
| Comments: | This healthy 10-year-old girl with multiple widescattered truncal collagenomas demonstrates speckled bone densities in her femoral heads. | ||||
| Related Images: | All related Images osteopoikilosis_3_090619 osteopoikilosis_2_090619 | ||||
| © 2001-2009, DermAtlas | Image Name: | osteopoikilosis_2_090619 | File Type: | jpg | |
| Diagnosis: | BUSCHKE-OLLENDORF SYNDROME / OSTEOPOIKILOSIS | Category: | Genetic Disorder / genodermatosis/genetic disorder / radiology | ||
| Body Site: | leg | Age: | 10 years | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | small densities in the femoral head | ||||
| Comments: | This healthy 10-year-old girl with multiple widescattered truncal collagenomas demonstrates speckled bone densities in her femoral heads. | ||||
| Related Images: | All related Images osteopoikilosis_3_090619 osteopoikilosis_1_090619 | ||||
| © 2001-2009, DermAtlas | Image Name: | osteopoikilosis_3_090619 | File Type: | jpg | |
| Diagnosis: | BUSCHKE-OLLENDORF SYNDROME / OSTEOPOIKILOSIS | Category: | Genetic Disorder / genodermatosis/genetic disorder / radiology | ||
| Body Site: | leg | Age: | 10 years | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | small densities in the femoral head | ||||
| Comments: | This healthy 10-year-old girl with multiple widescattered truncal collagenomas demonstrates speckled bone densities in her femoral heads. | ||||
| Related Images: | All related Images osteopoikilosis_2_090619 osteopoikilosis_1_090619 | ||||
| © 2001-2009, DermAtlas | Image Name: | Fibromatosis_Gardner_Syndrome_1_090304 | File Type: | jpg | |
| Diagnosis: | FIBROMA / GARDNER SYNDROME | Category: | Genetic Disorder / clinical sign | ||
| Body Site: | tibia / leg shin | Age: | 46 years | ||
| Contributor: | Joel Bamford, MD | ||||
| Description: | skin colored to hyperpigmented firm well demarcated papules and plaques | ||||
| Comments: | This 46-year-old man developed asymptomatic fibrous papules and plaques on his trunk and extremities in association with Gardner syndrome. | ||||
| © 2001-2009, DermAtlas | Image Name: | epidermal_nevus_syndrome_4_090226 | File Type: | jpg | |
| Diagnosis: | EPIDERMAL NEVUS SYNDROME / NEVUS, EPIDERMAL / MALFORMATION, CONGENITAL | Category: | Genetic Disorder / genodermatosis/genetic disorder / neonatal dermatology / congenital malformation | ||
| Body Site: | face / cheek | Age: | 8 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | uniformly brown pigmented well demarcated broad and narrow warty plaques along Blaschko lines | ||||
| Comments: | This 8-month-old boy with developmental delay, intractable seizures had an epidermal nevus involving much of his left cheek and ipsilateral hemimegaloencephaly. | ||||
| Related Images: | All related Images epidermal_nevus_syndrome_1_090226 epidermal_nevus_syndrome_2_090226 epidermal_nevus_syndrome_3_090226 | ||||
| © 2001-2009, DermAtlas | Image Name: | epidermal_nevus_syndrome_3_090226 | File Type: | jpg | |
| Diagnosis: | EPIDERMAL NEVUS SYNDROME / NEVUS, EPIDERMAL / MALFORMATION, CONGENITAL | Category: | Genetic Disorder / genodermatosis/genetic disorder / neonatal dermatology / congenital malformation | ||
| Body Site: | face / cheek | Age: | 8 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | uniformly brown pigmented well demarcated broad and narrow warty plaques along Blaschko lines | ||||
| Comments: | This 8-month-old boy with developmental delay, intractable seizures had an epidermal nevus involving much of his left cheek and ipsilateral hemimegaloencephaly. | ||||
| Related Images: | All related Images epidermal_nevus_syndrome_1_090226 epidermal_nevus_syndrome_2_090226 epidermal_nevus_syndrome_4_090226 | ||||
| © 2001-2009, DermAtlas | Image Name: | epidermal_nevus_syndrome_2_090226 | File Type: | jpg | |
| Diagnosis: | EPIDERMAL NEVUS SYNDROME / NEVUS, EPIDERMAL / MALFORMATION, CONGENITAL | Category: | Genetic Disorder / genodermatosis/genetic disorder / neonatal dermatology / congenital malformation | ||
| Body Site: | face / cheek | Age: | 8 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | uniformly brown pigmented well demarcated broad and narrow warty plaques along Blaschko lines | ||||
| Comments: | This 8-month-old boy with developmental delay, intractable seizures had an epidermal nevus involving much of his left cheek and ipsilateral hemimegaloencephaly. | ||||
| Related Images: | All related Images epidermal_nevus_syndrome_1_090226 epidermal_nevus_syndrome_3_090226 epidermal_nevus_syndrome_4_090226 | ||||
| © 2001-2009, DermAtlas | Image Name: | epidermal_nevus_syndrome_1_090226 | File Type: | jpg | |
| Diagnosis: | EPIDERMAL NEVUS SYNDROME / NEVUS, EPIDERMAL / MALFORMATION, CONGENITAL | Category: | Genetic Disorder / genodermatosis/genetic disorder / neonatal dermatology / congenital malformation | ||
| Body Site: | face / cheek | Age: | 8 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | uniformly brown pigmented well demarcated broad and narrow warty plaques along Blaschko lines | ||||
| Comments: | This 8-month-old boy with developmental delay, intractable seizures had an epidermal nevus involving much of his left cheek and ipsilateral hemimegaloencephaly. | ||||
| Related Images: | All related Images epidermal_nevus_syndrome_2_090226 epidermal_nevus_syndrome_3_090226 epidermal_nevus_syndrome_4_090226 | ||||
| © 2001-2009, DermAtlas | Image Name: | KID_syndrome_1_090126 | File Type: | jpg | |
| Diagnosis: | KID (KERATITIS, ICHTHYOSIS, DEAFNESS) SYNDROME | Category: | Genetic Disorder / genodermatosis/genetic disorder / papulosquamous eruptions | ||
| Body Site: | face / scalp eye lid / ear | Age: | 15 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | sparse blonde hair, generalized mild hyperkeratosis withy follicular plugging, mild conjunctivitis | ||||
| Comments: | This 15-month-old boy had sparse hair, generalized follicular plugging with erythema on his cheeks, subtle stippling of his palms and soles, sensorineural deafness, and chronic conjunctivitis. Genetic analysis revealed a mutation in GJB2, the gene encoding for gap junction protein connexin 26. | ||||
| Related Images: | All related Images KID_syndrome_3_090126 KID_syndrome_2_090126 | ||||
| © 2001-2009, DermAtlas | Image Name: | KID_syndrome_2_090126 | File Type: | jpg | |
| Diagnosis: | KID (KERATITIS, ICHTHYOSIS, DEAFNESS) SYNDROME | Category: | Genetic Disorder / genodermatosis/genetic disorder / papulosquamous eruptions | ||
| Body Site: | face / scalp eye lid / ear | Age: | 15 months | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | sparse blonde hair, generalized mild hyperkeratosis withy follicular plugging, mild conjunctivitis | ||||
| Comments: | This 15-month-old boy had sparse hair, generalized follicular plugging with erythema on his cheeks, subtle stippling of his palms and soles, sensorineural deafness, and chronic conjunctivitis. Genetic analysis revealed a mutation in GJB2, the gene encoding for gap junction protein connexin 26. | ||||
| Related Images: | All related Images KID_syndrome_3_090126 KID_syndrome_1_090126 | ||||
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