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 © 2001-2009, DermAtlas | Image Name: | Collodian_Baby_2_090828 | File Type: | jpg | |
| Diagnosis: | COLLODIAN BABY / HARLEQUIN ICHTHYOSIS / ICHTHYOSIS, HARLEQUIN | Category: | genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | total body | Age: | 2 days | ||
| Contributor: | Lakshmana Rao Lanka | ||||
| Description: | thick parchment-like skin with cracks, fissures, peeling skin, ectropion, and eclabian | ||||
| Comments: | This 2-day-old boy with a collodian membrane, ectropion, and eclabian developed widespread peeling. He was the offspring of consanguinious parents, and a sibling died from the same condition. | ||||
| Related Images: | Collodian_Baby_1_090828 | ||||
 © 2001-2009, DermAtlas | Image Name: | Collodian_Baby_1_090828 | File Type: | jpg | |
| Diagnosis: | COLLODIAN BABY / HARLEQUIN ICHTHYOSIS / ICHTHYOSIS, HARLEQUIN | Category: | genodermatosis/genetic disorder / congenital malformation | ||
| Body Site: | total body | Age: | 2 days | ||
| Contributor: | Lakshmana Rao Lanka | ||||
| Description: | thick parchment-like skin with cracks, fissures, peeling skin, ectropion, and eclabian | ||||
| Comments: | This 2-day-old boy with a collodian membrane, ectropion, and eclabian developed widespread peeling. He was the offspring of consanguinious parents, and a sibling died from the same condition. | ||||
| Related Images: | Collodian_Baby_2_090828 | ||||
 © 2001-2009, DermAtlas | Image Name: | angiokeratoma_1_090617 | File Type: | jpg | |
| Diagnosis: | ANGIOKERATOMA DIFFUSUM CORPORIS / ANGIOKERATOMA / FABRY DISEASE | Category: | genodermatosis/genetic disorder | ||
| Body Site: | umbilicus (navel) / back / thigh | Age: | 28 years | ||
| Contributor: | Sarah Cinque, MD | ||||
| Description: | |||||
| Comments: | Since the age of 10 this 28-year-old man has had multiple progressive dark red papules on the lower half of the body associated with episodic heat-triggered acral pain, decreased sweating, dry skin, abdominal pain and an impaired quality of life. He had relatives with chronic burning pain in the extremities, bowel disorders, red purple papules, psychiatric and cardiac diseases. The clinical suspicion of Fabry disease was confirmed with low alpha-galactosidase A activity in blood and a mutation in the alpha-galactosidase A gene. Additional findings included microalbuminuria, perypheral neuropathy, vascular tortuosity in conjunctiva and retina as well as cornea verticilata.. Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progresive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. Enzyme replacement therapy with agalsidase alpha leads to significant clinical benefits in patients with Fabry disease, and treatment is likely to alter the natural history of this disorder. | ||||
 © 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: | Neurofibromatosis_1_090518 | File Type: | jpg | |
| Diagnosis: | NEUROFIBROMATOSIS / CAFé AU LAIT SPOT / NEUROFIBROMA | Category: | neoplasm, benign / genodermatosis/genetic disorder / hyperpigmentation | ||
| Body Site: | chest / abdomen arm | Age: | 27 years | ||
| Contributor: | Ravi Singh | ||||
| Description: | generalized soft compressible skin colored to light brownish-purple papules and nodules | ||||
| Comments: | This 27-year-old man had an increasing number of soft tissue tumors over much of the skin surface. He had a history of hydrocephalus which was persistent despite treatment with folk remedies. | ||||
 © 2001-2009, DermAtlas | Image Name: | shagreen_patch_with_ash_leaf_macule_1_090518 | File Type: | jpg | |
| Diagnosis: | TUBEROUS SCLEROSIS / SHAGREEN PATCH / COLLAGENOMA / ASH LEAF MACULE | Category: | genodermatosis/genetic disorder | ||
| Body Site: | trunk / back | Age: | 16 years | ||
| Contributor: | Yashpal Manchanda, MD | ||||
| Description: | large soft to firm asymptomatic skin colored plaque and 1.5 X 0.5 cm hypopignmented macule | ||||
| Comments: | This mentally retarded adolescent girl with tuberous sclerosis was noted to have a shagreen patch and hypopigmented macule on her lower back at birth. She also had multiple angiofibromas on her face. | ||||
 © 2001-2009, DermAtlas | Image Name: | NAIL_PATELLA_SYND_1_090518 | File Type: | jpg | |
| Diagnosis: | NAIL-PATELLA SYNDROME / NAIL DYSTROPHY | Category: | genodermatosis/genetic disorder | ||
| Body Site: | nail, all | Age: | 52 years | ||
| Contributor: | Sandeep Kumar | ||||
| Description: | thin, hypoplastic easily fractured dysplastic nails | ||||
| Comments: | This 52-year-old man with nail-patella syndrome demonstrated the characteristic nail dystrophy. He also had hypoplastic patellae and absent radial heads bilaterally. | ||||
 © 2001-2009, DermAtlas | Image Name: | HERIDITARY_HEMORRHAGIC_TELENGIECTASIA_1_090518 | File Type: | jpg | |
| Diagnosis: | HEREDITARY HEMORRHAGIC TELANGIECTASIA / TELANGIECTASIA | Category: | vascular malformation / genodermatosis/genetic disorder | ||
| Body Site: | lip / tongue, dorsal surface | Age: | 16 years | ||
| Contributor: | Pradeep Srivastava, MBBS,DCD | ||||
| Description: | discrete and confluent red papules | ||||
| Comments: | This 16-year-old girl complained of frequent nose bleeds and slowly enlarging small red papules on her cheeks, lips, oral mucosa, and finger tips for 3 years. | ||||
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