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 © 2001-2009, DermAtlas | Image Name: | hypopidrotic_ectoderma_dysplasia_1_070107 | File Type: | jpg | |
| Diagnosis: | ECTODERMAL DYSPLASIA, HYPOHIDROTIC / ECTODERMAL DYSPLASIA | Category: | genodermatosis/genetic disorder / dental/oral disorder | ||
| Body Site: | tooth | Age: | 0 | ||
| Contributors: | Meg Gerstenblath, MS IV Rachel Nussbaum, MD | ||||
| Description: | lack of dental enamel and dental caries | ||||
| Comments: | This 15-year-old boy came to the attention of his pediatrician at 3 years of age because of complete lack of hair growth. He eventually grew sparse brittle hair with a receding hair line. He also developed little body hair. He had no enamel on his teeth and developed multiple dental caries. Although he reported decreased sweating, he was able to participate in sports. Academically, he was number one in his class. On examination he had frontal bossing, a broad nasal root, and prominent (everted) lips. Note the dental changes and brittle sparse receding hair. The ectodermal dysplasias are a large, heterogeneous group of inherited diseases with defects in the development of two or more structures derived from embryonic ectoderm, most commonly the skin, hair, teeth, eccrine glands, and nails. Ectodermal dysplasia is present in over 150 clinically distinct inherited syndromes. These disorders are caused by genetic defects in the ectodysplasin signal transduction pathway, which is used by epithelial cells in the developing tooth, hair follicle, and eccrine sweat gland during morphogenesis; defects in this pathway lead to aplasia, hypoplasia or dysplasia of these structures. The most frequently reported manifestation of ED is hypohidrotic (or anhydrotic) ectodermal dysplasia (HED), also called Christ-Siemens-Touraine syndrome (OMIM #305100). The most common form of HED is X-linked; autosomal dominant and recessive forms are much less common. The X-linked form occurs in about 1 in 100,000 boys (live-born births) and occurs in all racial and ethnic groups. The affected gene is ED1, which codes for ectodysplasin, which is a ligand secreted by epithelial cells. Of note, mutations in the receptor for ectodysplasin, EDAR, are responsible for the autosomal dominant and recessive forms of HED. Newborns may present with a collodion membrane or skin scaling. Scalp hair is sparse or completely absent; it can be wiry and brittle and is usually blond though lusterless. Hair may darken at puberty and secondary sexual hairs may be normal although body hair is usually sparse or absent. Most affected male patients are unable to sweat, which may lead to hyperpyrexia. The skin can be smooth because of absent sweat pores. Primary and secondary teeth may be affected, with no enamel on teeth or teeth that are abnormally shaped (peg-shaped) or absent or reduced in number. Individuals have a typical facies with a broad saddle nose, frontal bossing, and full, everted lips. Other common skin findings are eczema, periorbital wrinkling and hyperpigmentation, and facial sebaceous hyperplasia. Nails are typically unaffected. Some individuals have thick nasal secretions and recurrent upper and lower respiratory tract infections. Intelligence is normal. In the X-linked disorder, female carriers may be affected with patchy hair sparseness, missing or abnormally-shaped teeth, and patchy distribution of sweat glands (along Blaschko’s lines); random X-inactivation accounts for this variability. Treatment includes prevention of hyperpyrexia, dental restoration, and treatment of eczema and other associated conditions. A helpful resource for patients and physicians is the National Foundation for Ectodermal Dysplasias (www.nfed.org). References: • Lamartine J. Towards a new classification of ectodermal dysplasias. Clinical and Experimental Dermatology 2003;28:351-355. • Itin PH and Fistarol SK. Ectodermal Dysplasias. Am J Med Genet 2004;131C:45-51. • Bolognia JL, Jorizzo JL, Rapini RP, et al. Dermatology. 2003, Elsevier Limited, Spain. • National Foundation for Ectodermal Dysplasias website: http://www.nfed.org/FAQ.htm • OMIM website: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305100 | ||||
| Related Images: | All related Images hypopidrotic_ectoderma_dysplasia_5_070107 hypopidrotic_ectoderma_dysplasia_4_070107 hypopidrotic_ectoderma_dysplasia_3_070107 hypopidrotic_ectoderma_dysplasia_2_070107 | ||||
 © 2001-2009, DermAtlas | Image Name: | hypopidrotic_ectoderma_dysplasia_5_070107 | File Type: | jpg | |
| Diagnosis: | ECTODERMAL DYSPLASIA, HYPOHIDROTIC / ECTODERMAL DYSPLASIA | Category: | genodermatosis/genetic disorder / dental/oral disorder | ||
| Body Site: | tooth | Age: | 0 | ||
| Contributors: | Meg Gerstenblath, MS IV Rachel Nussbaum, MD | ||||
| Description: | lack of dental enamel and dental caries | ||||
| Comments: | This 15-year-old boy came to the attention of his pediatrician at 3 years of age because of complete lack of hair growth. He eventually grew sparse brittle hair with a receding hair line. He also developed little body hair. He had no enamel on his teeth and developed multiple dental caries. Although he reported decreased sweating, he was able to participate in sports. Academically, he was number one in his class. On examination he had frontal bossing, a broad nasal root, and prominent (everted) lips. Note the dental changes and brittle sparse receding hair. The ectodermal dysplasias are a large, heterogeneous group of inherited diseases with defects in the development of two or more structures derived from embryonic ectoderm, most commonly the skin, hair, teeth, eccrine glands, and nails. Ectodermal dysplasia is present in over 150 clinically distinct inherited syndromes. These disorders are caused by genetic defects in the ectodysplasin signal transduction pathway, which is used by epithelial cells in the developing tooth, hair follicle, and eccrine sweat gland during morphogenesis; defects in this pathway lead to aplasia, hypoplasia or dysplasia of these structures. The most frequently reported manifestation of ED is hypohidrotic (or anhydrotic) ectodermal dysplasia (HED), also called Christ-Siemens-Touraine syndrome (OMIM #305100). The most common form of HED is X-linked; autosomal dominant and recessive forms are much less common. The X-linked form occurs in about 1 in 100,000 boys (live-born births) and occurs in all racial and ethnic groups. The affected gene is ED1, which codes for ectodysplasin, which is a ligand secreted by epithelial cells. Of note, mutations in the receptor for ectodysplasin, EDAR, are responsible for the autosomal dominant and recessive forms of HED. Newborns may present with a collodion membrane or skin scaling. Scalp hair is sparse or completely absent; it can be wiry and brittle and is usually blond though lusterless. Hair may darken at puberty and secondary sexual hairs may be normal although body hair is usually sparse or absent. Most affected male patients are unable to sweat, which may lead to hyperpyrexia. The skin can be smooth because of absent sweat pores. Primary and secondary teeth may be affected, with no enamel on teeth or teeth that are abnormally shaped (peg-shaped) or absent or reduced in number. Individuals have a typical facies with a broad saddle nose, frontal bossing, and full, everted lips. Other common skin findings are eczema, periorbital wrinkling and hyperpigmentation, and facial sebaceous hyperplasia. Nails are typically unaffected. Some individuals have thick nasal secretions and recurrent upper and lower respiratory tract infections. Intelligence is normal. In the X-linked disorder, female carriers may be affected with patchy hair sparseness, missing or abnormally-shaped teeth, and patchy distribution of sweat glands (along Blaschko’s lines); random X-inactivation accounts for this variability. Treatment includes prevention of hyperpyrexia, dental restoration, and treatment of eczema and other associated conditions. A helpful resource for patients and physicians is the National Foundation for Ectodermal Dysplasias (www.nfed.org). References: • Lamartine J. Towards a new classification of ectodermal dysplasias. Clinical and Experimental Dermatology 2003;28:351-355. • Itin PH and Fistarol SK. Ectodermal Dysplasias. Am J Med Genet 2004;131C:45-51. • Bolognia JL, Jorizzo JL, Rapini RP, et al. Dermatology. 2003, Elsevier Limited, Spain. • National Foundation for Ectodermal Dysplasias website: http://www.nfed.org/FAQ.htm • OMIM website: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305100 | ||||
| Related Images: | All related Images hypopidrotic_ectoderma_dysplasia_4_070107 hypopidrotic_ectoderma_dysplasia_3_070107 hypopidrotic_ectoderma_dysplasia_2_070107 hypopidrotic_ectoderma_dysplasia_1_070107 | ||||
 © 2001-2009, DermAtlas | Image Name: | minocycline_teeth_1_041027 | File Type: | jpg | |
| Diagnosis: | DRUG REACTION, HYPERPIGMENTATION / DRUG REACTION / MINOCYCLINE REACTION | Category: | drug reaction / treatment complication / hyperpigmentation | ||
| Body Site: | tooth | Age: | 21 years | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | yellow-brown discoloration of teeth | ||||
| Comments: | This healthy 21-year-old man noted a marked improvement in his inflammatory acne vulgaris while on minocycline. However, after 6 months of therapy he developed yellow-brown discoloration of most of his teeth. | ||||
 © 2001-2009, DermAtlas | Image Name: | pyorrhea_alveolaris_1_041024 | File Type: | jpg | |
| Diagnosis: | PERIODONTITIS / PYORRHEA ALVEOLARIS | Category: | dental/oral disorder | ||
| Body Site: | mouth / gingiva tooth | Age: | 40 years | ||
| Contributor: | Kosman Sadek Zikry, MD | ||||
| Description: | erythema, edema, crusting and purulent discharge from the gingival tissue | ||||
| Comments: | This 40-year-old man with poor oral hygiene developed chronic periodontitis. | ||||
 © 2001-2009, DermAtlas | Image Name: | Enamel_Hypoplasia_1_040219 | File Type: | jpg | |
| Diagnosis: | DENTAL DYSPLASIA / CARIES | Category: | dental/oral disorder / renal disease | ||
| Body Site: | tooth / mouth | Age: | 24 years | ||
| Contributor: | Alexandre Fraige, DDS | ||||
| Description: | enamel hypoplasia with sclerotic dentin | ||||
| Comments: | This 24-year-old man with chronic renal failure resulting from a congenital kidney malformation developed enamel hypoplasia which affected his primary and permanent dentition. After undergoing dialysis for 6 years, he received a kidney transplant. The pale yellow dentin pigment resulted from lack of enamel and prolonged exposure to the oral environment. | ||||
 © 2001-2009, DermAtlas | Image Name: | Tooth_Fracture_1_030930 | File Type: | jpg | |
| Diagnosis: | TRAUMA / DENTAL FRACTURE | Category: | dental/oral disorder / environmental injury | ||
| Body Site: | tooth / mouth | Age: | 17 years | ||
| Contributor: | Douglas Hoffman, MD | ||||
| Description: | missing outer wedge of the right upper lateral incisor revealing underlying dentin | ||||
| Comments: | This 17-year-old boy fractured the right upper lateral incisor while playing football revealing underlying dentin. There was also a vertical hairline fracture along the length of the tooth | ||||
 © 2001-2009, DermAtlas | Image Name: | Stained_Deciduous_Teeth_1_030930 | File Type: | jpg | |
| Diagnosis: | DENTAL STAINING | Category: | dental/oral disorder / hyperpigmentation / infections and infestations | ||
| Body Site: | tooth | Age: | 2 years | ||
| Contributor: | Douglas Hoffman, MD | ||||
| Description: | gray plaques | ||||
| Comments: | This 2-year-old girl developed discrete dark plaques on the anterior aspect of both central upper incisors. A dental consultant reported that the enamel was intact and that the staining was caused by chromophilic bacteria. The plaques were removed mechanically. | ||||
 © 2001-2009, DermAtlas | Image Name: | Dental_Caries_1_030908 | File Type: | jpg | |
| Diagnosis: | CARIES | Category: | dental/oral disorder | ||
| Body Site: | tooth / mouth | Age: | 4 years | ||
| Contributor: | Douglas Hoffman, MD | ||||
| Description: | extensive dental caries | ||||
| Comments: | This 4-year-old demonstrates extensive tooth decay of the upper central and lateral incisors and canines. | ||||
 © 2001-2009, DermAtlas | Image Name: | tetracycline_1_021205 | File Type: | jpg | |
| Diagnosis: | TETRACYCLINE PIGMENTATION | Category: | drug reaction / hyperpigmentation | ||
| Body Site: | tooth / mouth | Age: | 36 years | ||
| Contributor: | Bernard Cohen, MD | ||||
| Description: | bands of brown pigmentation | ||||
| Comments: | This healthy 36 year old woman was given tetracycline on numerous occasions during early childhood. The bands of pigmentation correspond to times of exposure. | ||||
 © 2001-2009, DermAtlas | Image Name: | Sturge_Weber_syndrome_1_020515 | File Type: | jpg | |
| Diagnosis: | STURGE-WEBER SYNDROME / VASCULAR MALFORMATION | Category: | cutaneous sign of systemic disease / vascular malformation | ||
| Body Site: | mouth / gingiva tooth / vermillion/ vermilion border | Age: | 25 years | ||
| Contributor: | Crispian Scully, MD | ||||
| Description: | asymmetric gingival hypertrophy, reddish purple lplaque | ||||
| Comments: | This 25 year old man had an extensive facial portwine stain with involvement of the lips and gingivae. Note the marked gingival hypertrophy particularly of the left maxilla. | ||||
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