Neoplasm, and Overgrowth

Low match HEREDITARY GINGIVAL FIBROMATOSIS

Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.

HEREDITARY GINGIVAL FIBROMATOSIS Is also known as autosomal dominant gingival fibromatosis|ggf1|autosomal dominant gingival hyperplasia|gingf|hereditary gingival hyperplasia|fibromatosis, gingival, hereditary|hgf

• Overgrowth
• Hypertrichosis
• Gingival overgrowth
• Gingival fibromatosis

SOURCES: OMIM ORPHANET MENDELIAN

Low match X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.

X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS Is also known as chromosome xq27.1 interchromosomal insertion syndrome|hcg|congenital generalized hypertrichosis, macias-flores type|cgh|macias flores-garcia cruz-rivera syndrome

• Hearing impairment
• Scoliosis
• Abnormality of the dentition
• Skeletal dysplasia
• Hirsutism

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1 ) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).

X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION Is also known as x-linked acrogigantism|familial infantile gigantism due to xq26 microduplication|familial infantile gigantism due to dup(x)q(26)|xlag|chromosome xq26 microduplication syndrome|x-lag (x-linked acrogigantism) due to dup(x)q(26)

• Neoplasm
• Coarse facial features
• Overgrowth
• Ventricular hypertrophy
• Tall stature

SOURCES: ORPHANET OMIM MENDELIAN

Low match ENAMEL-RENAL SYNDROME

Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.

ENAMEL-RENAL SYNDROME Is also known as enamel-renal-gingival syndrome|amelogenesis imperfecta and gingival fibromatosis syndrome|ers|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|enamel-renal syndrome|amelogenesis imperfecta-nephrocalcinosis syndrome|aigfs

• Intellectual disability
• Abnormality of the dentition
• Renal insufficiency
• Nephropathy
• Delayed eruption of teeth

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS

Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.

• Hyperkeratosis
• Arthralgia
• Arthritis
• Skin rash
• Overgrowth

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match FIBROMATOSIS, GINGIVAL, 5; GINGF5

Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by Pehlivan et al., 2009).

FIBROMATOSIS, GINGIVAL, 5; GINGF5 Is also known as ggf5|hgf5|fibromatosis, gingival, hereditary, 5

• Short stature
• Hernia
• Osteoporosis
• Respiratory tract infection
• Overgrowth

SOURCES: OMIM MENDELIAN

Low match EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma (NEPPK ) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1 ) is caused by mutation in the KRT16 gene (OMIM ). Another focal form, FNEPPK2 (OMIM ), is caused by mutation in the TRPV3 gene (OMIM ); mutation in TRPV3 can also cause Olmsted syndrome (OLMS ), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB ) is caused by mutation in the AQP5 gene (OMIM ). The Nagashima type of nonepidermolytic diffuse PPK (PPKN ) is caused by mutation in the SERPINB7 gene (OMIM ).A generalized form of epidermolytic hyperkeratosis (EHK ), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (OMIM ).For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}.

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as eppk|keratosis palmaris et plantaris familiaris|diffuse erythrodermic palmoplantar keratoderma, vÖrner type|epidermolytic palmoplantar keratoderma of voerner|keratosis of greither|ppke|epidermolytic palmoplantar keratoderma of vÖrner|diffuse erythrodermic

• Neoplasm
• Abnormality of the dentition
• Clinodactyly
• Hyperhidrosis
• Hyperkeratosis

SOURCES: ORPHANET OMIM MENDELIAN

Low match PLEUROPULMONARY BLASTOMA; PPB

Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996).In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010).Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011).

PLEUROPULMONARY BLASTOMA; PPB Is also known as ppb familial tumor and dysplasia syndrome|ppbftds

• Neoplasm
• Atrial septal defect
• Patent ductus arteriosus
• Leukemia
• Overgrowth

SOURCES: OMIM ORPHANET MENDELIAN

Low match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

• Scoliosis
• Neoplasm
• Ptosis
• Depressed nasal bridge
• Wide nasal bridge

SOURCES: OMIM ORPHANET MENDELIAN

Low match ISOLATED CONGENITAL MEGALOCORNEA

Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.

ISOLATED CONGENITAL MEGALOCORNEA Is also known as congenital anterior megalophthalmia|mgcn

• Cataract
• Visual loss
• Glaucoma
• Photophobia
• Congenital cataract

SOURCES: OMIM ORPHANET MENDELIAN