Term
| Etiology of ectodermal dysplasia |
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Definition
| Hereditary, AD, AR or X-linked 2 or more ectodermally derived structures fail to develop |
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Term
| Clinical features of ecotdermal dysplasia |
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Definition
| Abnormalities of skin, hair, teeth, sweat glands, salivary glands over 120 subtypes; rare 1/10,000-1/100,000 |
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Term
| Etiology of hypohidrotic ectodermal dysplasia |
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Definition
X-linked, increased in males
Partial expression in females (lyon effect) |
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Term
| Clinical features of hypohidrotic ectodermal dysplasia |
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Definition
| Heat intolerance (decrease sweat glands); brittle, malformed nails; periocular skin (wrinkled and hyperpigmentation); midface hypoplasia --> protuberant lips |
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Term
| Oral manifestations of hypohidrotic ectodermal dysplasia |
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Definition
| Teeth - decreased in # and conical; xerostomia/salivary gland hypofunction |
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Term
| Treatment for ectodermal dysplasia |
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Definition
| None to prevent; manage oral problems, maintain dentition, overdentures as child grows |
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Term
| Prognosis for ectodermal dysplasia |
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Definition
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Term
| alternative names for white sponge nevus |
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Definition
| Familial white folded dysplasia of mucous membranes; white folded gingivostomatitis; oral epithelial nevus; congenital leukokeratosis; cannon's disease |
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Term
| Etiology of white sponge nevus |
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Definition
| Autosomal dominant, mutation of keratin pair K4 and K13 (3 pair deletion in helix initiation peptide of K4 in two families) |
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Term
| Treatment & prognosis for white sponge nevus |
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Definition
none in most cases; tetracycline rinses may reduce unpleasant white sloughing mucosa; dermatol; topical tretinoin
Excellent |
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Term
| Another name for hereditary benign intraepithelial dyskeratosis (HBID) |
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Definition
| Witkop-Von Sallmann disease |
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Term
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Definition
Triracial isolate (caucasian, african-american, haliwa native americans) in Halifax County, N.C.
Eye lesions first noticed by a public health nurse in 1954
Oral and genetic (autosomal dominant) first reported in 1960 |
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Term
| Clinical features of HBID |
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Definition
| Usually develops within 1st year of life; lesions (eye and mouth) peak by age 15 yrs; may regress in severity w/ age |
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Term
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Definition
| Several histologic and phenotypic similarities w/ other disorders (white sponge nevus; Darier's disease - keratosis Follicularis); usually affects only eyes and oral mucosa, although other mucosal sites are rarely affected |
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Term
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Definition
| Acanthosis, vacuolization of spinous cell layer; epi dyskeratosis (tobacco cells waxy, eosinophilic cells in sections; cell within a cell-cytology best, orange-brown in Papanicolaou stain) |
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Term
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Definition
Oral - no treatment needed
Eyes - may require medical care and surgery |
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Term
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Definition
Oral - excellent
Eyes - may progress to blindness |
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Term
| Alternate names for dyskeratosis congenita |
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Definition
Cole-Engman syndrome
Zinsser-Cole-Engman syndrome |
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Term
| Etiology of dyskeratosis congenita |
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Definition
Rare genodermatosis; X-linked recessive trait (male predominance) due to DKC-1 gene, some autosomal dominant or recessive variants. Gene mutations disrupts normal telomerase activity, critical for normal cell longevity
Significan to dentistry: oral lesions undergo malignant transformation; susceptible to aplastic anemia (70%) |
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Term
| Clinical features of dyskeratosis congenita |
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Definition
First decade of life; skin reticular hyperpigmentation (face, neck, chest, etc.); abnormal dysplastic nails; bullae on tongue and buccal mucosa --> erosions --> leukoplakia --> 1/3 lesions develop SCCA
Thrombocytopenia, aplastic anemia |
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Term
| Treatment and prognosis for dyskeratosis congenita |
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Definition
| Treatment: nonspecific, palliative for oral lesions, avoid trauma, control local factors; Prognosis - poor most deaths related to infections, bleeding, and malignancy |
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Term
| Alternative names for Ehler-Danlos |
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Definition
| Group of hereditary CT diseases characterized by abnormal collagen |
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Term
| Etiology of Ehler-Danlos syndrome |
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Definition
Multiple types
Most common is classic type, mild-severe, autosomal dominant, Type V or Type I collagen mutation
Other types: hypermobility, vascular, etc. |
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Term
| Clinical features of ehler-danlos |
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Definition
| Hyperelasticity of skin, cutaneous fragility, unusual healing response-papyraceous scarring (looks like crumped cigarette paper); 50% can touch their tongue to their nose (Gorlin sign) |
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Term
| Oral manifestations of Ehler-Danlos |
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Definition
Gorlin sign, bleeding, bruising, friable oral mucosa, increased TMJ problems
Dental: most have norm teeth, malformed stunted roots; large pulp stones, hypoplastic enamel |
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Term
| Treatment and prognosis of Ehler-Danlos |
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Definition
| None specific; type dependent (vascular type, aortic aneursym, mild classic - problems with pregnancy); genetic counselling |
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Term
| Alternative name for tuberous sclerosis |
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Definition
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Term
| Etiology of tuberous sclerosis |
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Definition
hereditary, autosomal dominant
Multisystem disease
Epilepsy 80%, mental retardation, psychiatric and behavioral problems |
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Term
| Primary diagnostic criteria for tuberous sclerosis |
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Definition
| Facial angiofibromas, ungual fibromas, cortical tuber, subependymal hamartoma, multiple retinal hamartomas, fibrous plaque on forehead |
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Term
| Clinical features of tuberous sclerosis |
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Definition
Benign tumors/hamaromas (brain, kidney, heart, eye, bone, lung, liver)
Facial rash angiofibroma 90%
White patches on skin "shagreen" |
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Term
| Oral manifestations of tuberous sclerosis |
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Definition
Fibrous growths on gingiva 11% usually anterior
Enamel pits |
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Term
| Treatment and prognosis of tuberous sclerosis |
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Definition
Manage seizures & developmental delay
No cure, malignant, sarcomatous change esp in rhabdomyomas and angiomyolipomas, renal cell carcinoma |
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Term
| Etiology of Cowden's syndrome (multiple hamartoma syndrome) |
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Definition
| Rare 1/200,000; auto dom chromosome 10, mutation of PTEN (phosphatase and tensin homolog deleted); benign hamartomas and malignant neoplasms; hamartoma is developmental anomaly characterized by overgrowth of tissues naturally occurring in that area |
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Term
| Clinical features of Cowden's syndrome |
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Definition
| lesions develop in second decade, face - trichilemmomas, palmoplantar keratosis; 80% oral multiple papules (gingiva, dorsal tongue, buccal mucosa) papillary fibroepithelial hyperplasia histologically |
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Term
| Diagnosis of Cowden's syndrome - made by 2 out of 3 |
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Definition
| Multiple facial trichilemmomas; multiple oral papules, acral keratoses |
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Term
| Treatment and prognosis for Cowden's syndrome |
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Definition
No treatment for oral lesions; monitor closely - annual exams +/- mastectomy
Benign and malignant thyroid neoplasms, breast cancer in women 25-50% by 40; GI hamartomatous polyps; benign and malignance GU tumors in women |
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Term
| Characteristics of chronic ulcerative stomatitis |
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Definition
mimics erosive lichen planus
autoantibodies to a 70 kD nuclear protein similar to p63
Usually affects women in the 6th decade of life
Desquamative gingivitis, tongue, buccal mucosa
20% lichenoid skin lesions
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Term
| Histology of chronic ulcerative stomatitis |
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Definition
Similar to lichen planus, but epithelium is more atrophic
Inflammatory infiltrate includes lots of plasma cells + lymphocytes
Artifactual separation from CT is not usual |
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Term
Diagnosis for Chronic ulcerative stomatitis
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Definition
| Direct & indirect immunofluorescence |
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Term
| Treatment and prognosis for chronic ulcerative stomatitis |
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Definition
May not respond to topical or systemic corticosteroids; Hydroxychlorquine
Prognosis: chronic, non-curable, work for control |
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Term
| Psoriasis characteristics |
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Definition
Common chronic skin disease - 2% in US
Increased proliferative activity of keratinocytes
Activated T cells --> cytokines, adhesion molecules, chemotactic polypeptides, and growth factors
Genetic factors + environmental factors |
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Term
| Clinical features of psoriasis |
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Definition
Often presents 2nd-3rd decade
Scaly red and white slivery scale that may come and go; scalp, elbows, knees are common; asymptomatic --> itching; psoriatic arthritis (11%); oral lesions uncommon - white or red plaques ulcerations |
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Term
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Definition
| Parakeratosis; elongated rete ridges; CT papillae extend to thin epithelium; Chronic inflammation; microabscess in parakeratin; can also be seen with oral mucosal cinnamon reaciton and erythema migrans |
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Term
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Definition
| No increase in mortality; increased skin SCCA in patients treated with PUVA or methotrexate |
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