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34 Cards in this Set
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is also known as Premature Aging Syndrome, it is a rare genetic disorder that causes accelerated aging as early as the fetal development stage, in children as early as 2 years old and even in adults upon late onset. |
PROGERIA |
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CLINICAL FEATURES OF PROGERIA |
1. PHYSICAL APPEARANCE 2. CARDIOVASCULAR COMPLICATIONS 3. OTHER MANIFESTATIONS |
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• Late onset or occurs later in life and common in adults • They have an increased risk to develop cancer •WRN Gene (WRN Gene provides instructions for producing the Werner protein, which plays a crucial role in repairing damaged DNA) |
WERNER'S SYNDROME (ADULT PROGERIA) |
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• Classic type of progeria • Onset is early childhood • It causes the children affected with the disease to age rapidly as early as the first two years of life • Children with HGPS generally appears normal at birth LMNA Gene (LMNA gene provides instructions for making a protein called Laminin A) Laminin A plays an important role in determining the shape of the nucleus within cells. •produces an abnormal production or version of your Laminin A protein. |
HUTCHINSON-GLIFFORD PROGERIA SYNDROME (HGPS) |
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Type of progeria that affects fetuses that are still in the womb (evidence of intrauterine growth restrictions) • Characterized by an aged appearance at birth POLR3A Gene (It provides instructions for making the largest piece (subunit) of an enzyme called RNA Polymerase III) which is involved in the production of ribonucleic acid (RNA). |
WIEDEMANN- RAUTENSTRAUCH SYNDROME (NEONATAL PROGEROID SYNDROME - NPS) |
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MEDICAL MANAGEMENT FOR PROGERIA |
•MULTIDISCIPLINARY APPROACH •SYMPTOMATIC TREATMENT •SUPPORTIVE CARE |
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•is a genetic condition characterized by a lack or reduction in melanin, the pigment that gives color to the skin, hair, and eyes. •The enzyme produced by the TYR gene called tyrosinase is required for the synthesis of melanin pigment. •can either exhibit partial or complete lack of pigment or coloring including eyes, skin and hair. |
ALBINISM |
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•is the most common type of albinism, characterized by a complete or partial lack of melanin in the skin, hair, and eyes. •OCA1, OCA2, OCA3, and OCA4, each associated with specific gene mutations and varying degrees of melanin reduction. |
OCULOCUTANEOUS ALBINISM (OCA) |
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primarily affects the eyes and is characterized by reduced pigmentation in the retina and optic nerve. is usually less severe than OCA in terms of skin and hair pigmentation. |
OCULAR ALBINISM |
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MODE OF INHERITANCE OF ALBINISM |
AUTOSOMAL RECESSIVE - BOTH PARENTS MUST CARRY THE MUTATED GENE |
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clinical manifestation of albinism |
1. VISUAL IMPAIRMENT 2. SKIN, HAIR AND EYE COLOR 3. OTHER SYMPTOMS -photophobia (extreme sensitivity to light) -astigmatism |
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CLINICAL MANAGEMENT |
CLINICAL EVALUATION,FAMILY HISTORY AND GENETIC TESTING |
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medical management |
•LIFESTYLE MANAGEMENT •PSYCHOSOCIAL ASPECTS |
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are a group of rare genetic skin disorders characterized by dry, thickened, and scaly skin. |
ICHTHYOSIS |
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• Collective name for a group of monogenic disorders of cornification. • Abnormal quality or quantity of scale produced • Abnormal thickness of stratum corneum • Abnormal keratinocyte kinetics and often associated with skin inflammation • Gene Mutation: KRT1 and KRT10 (encoding keratin 01 and 10) • KRT1 and KRT10 are expressed in the spinous and granular layer of the epidermis. |
CONGENITAL ICHTHYOSIS |
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• It appears at birth and continues throughout life. • Abnormality in the cornification (production of the outer dead layer of the skin) • It disrupts the normal formation of the epidermis resulting in impaired regulation of body temperature, water retention and resistance to infections. • Gene mutation: TGM1 Gene • TGM1 gene provides instruction for making an enzyme called transglutaminase 1 • This enzyme is found in cells that make up the outermost layer of the skin (epidermis). |
LAMELLAR ICHTHYOSIS |
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• It is the most common and mildest form • Main clinical feature is dry, thick and scaly skin. • Gene mutation: (FLG) filaggrin gene • FLG provides instructions for making profilaggrin which make up the outermost layer of the skin (epidermis) |
ICHTHYOSIS VULGARIS |
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• Severe type • Infants with this condition are born prematurely with very hard thick skin covering most of their bodies • The skin forms large diamond-shaped plates that are separated by deep cracks (fissures) • Gene Mutation: ABCA12 Gene which gives instructions for making protein that is necessary for skin cells to develop normally. • Gene Mutation: ABCA12 Gene plays a crucial role in lipid transportation to the superficial layers of the skin (epidermis) creating an affective skin barrier. |
HARLEQUIN ICHTHYOSIS |
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MEDICAL MANAGEMENT |
1. SKINCARE MEASURES 2. REDNESS AND INFLAMMATION 3. TOPICAL MEDICATIONS 4. SYSTEMIC TREATMENTS 5. SUPPORTIVE CARE |
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is a group of connective tissue disorders that affect the production and structure of collagen, a key protein in the body. |
EHLERS-DANLOS SYNDROME |
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• Congenital bilateral hip dislocation • Severe GJH (Generalized Joint Hypermobility) with multiple dislocations • Skin hyperextensibility • Heterozygous mutations in either COL1A1 or COL1A2 which leads to the entire or partial loss of exon 6 gene. • Inherited in autosomal dominant pattern |
ARTHROCHALASIA (aEDS) |
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• Thin cornea with or without rupture (central corneal thickness often <400 um) • Early onset progressive keratoconus • Early onset keratoglobus • Blue sclera • Molecular testing confirmatory test • ZNF469 or PRDMS • Inherited through autosomal recessive pattern |
BRITTLE CORNEA SYNDROME (BCS) |
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• Severe cardiac-valvular problems (aortic & mitral valve) • Hyperextensibility, atrophic scars, thin skin, easy bruising • Joint hypermobility (Generalized & restricted to small joints) • Molecular testing as confirmatory test • Complete or lack of proa2-chain of type 1 collagen due to biallelic mutation of COL1A2 which leads to mRNA decay • Inherited through autosomal recessive pattern |
CARDIAC-VALVULAR (cvEDS) |
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• Skin hyperextensibility and atrophic scarring • GJH (Generalized Joint Hypermobility) • Molecular testing as confirmatory test • Heterozygous mutation in one of the genes encoding type V collagen (COL5A1 and COL5A2 • Rare type in collagen type 1 • Inherited through autosomal dominant pattern |
CLASSICAL (cEDS) |
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• Skin hyperextensibility with velvety skin texture • No atrophic scarring • GJH (Generalized Joint Hypermobility) with or without recurrent dislocations (shoulder & ankle affected) • Easily bruised skin or spontaneous ecchymoses (discolorations of the skin resulting from bleeding underneath) • Molecular testing as confirmatory test |
CLASSICAL-LIKE (clEDS) |
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• Extreme skin fragility and characteristics of craniofacial features • Confirmatory test is molecular testing • Biallelic mutation in ADAMTS2 gene • Inherited through autosomal recessive pattern |
DERMATOSPARAXIS ( dEDS) |
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• It remains a clinical condition because there is no molecular or genetic cause yet identified • Asymptomatic joint hypermobility • Diagnosis is made only those who met all the clinical manifestation and criteria • Ongoing research to discover underlying genetic cause • Unidentified • Inherited through autosomal recessive pattern |
HYPERMOBILE (hEDS) |
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• Congenital muscle hypotonia • Congenital or early onset kyphoscoliosis (progressive or non progressive) • GJH (Generalized Joint Hypermobility with dislocations and subluxations (shoulders, hips and knees in particular) • Biallelic mutation of PLODt gene & FKBP14 gene Confirmatory Test: • Urine test with high performance liquid chromatography (to evaluate the ratio of lysylpridinoline to hydroxysyl-pyridinoline crosslinks) • Molecular testing |
KYPHOSIOLITIC (kEDS) |
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• Congenital multiple contractures, characteristically adduction- flexion contractures and or talipes equinovarus (clubfoot) • Craniofacial features are evident at birth • Cutaneous features including skin hyperextensibility, easy bruising, skin fragility, atrophic scars and increased palmar wrinkling. • ConfirmatoryTestdone through molecular testing Gene Mutation: • Biallelic mutations in CHST14 gene • Few mutations are also identified with DSE gene |
MUSCULOCONTRACTURAL (mcEDS) |
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• Evidence of congenital hypotonia, muscle atrophy that improves with age • Proximal joint contractures (knee, hip and elbow) • Hypermobility of distal joints • Confirmatory test through molecular testing Gene Mutation: • Heterozygous or biallelic mutations in COL12A1 gene • Inheritance pattern is either autosomal dominant or autosomal recessive |
MYOPATHIC (mEDS) |
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• Severe and intractable periodontitis of early onset (childhood or adolescent) • Lack of attached gingiva • Pretibial plaques • Family history of a first degree relative who meets clinical criteria • Confirmatory test: Molecular testing • C1R or C1S gene • Inheritance pattern is autosomal dominant |
PERIODONTAL (pEDS) |
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• Family history of vEDS with documented causative variant in COL3A1 gene • Arterial rupture at a young age • Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology • Uterine rapture during 3rd trimester in the absence of previous C-section or severe peripartum or perineal tears or trauma • Carotid-carvernous sinus fistula (CCSF) formation in the absence of trauma • Confirmatory test is done through molecular testing Gene Mutation: • Heterozygous mutation in COL3A1 gene • In rare cases biallelic pathogenic variants in COL3A1 may be identified • Inheritance pattern is autosomal dominant |
VASCULAR (vEDS) |
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• Short stature (progressive in childhood) • Muscle hypotonia (from severe congenital to mild later onset) • Bowing of limbs • Confirmatory test is done through molecular testing • B4GALT7, B3GALT6 and SLC39A13 • Inheritance pattern is autosomal recessive |
SPONDYLODYSPLASTIC |
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• Clinical evaluation through molecular and genetic testing • Multidisciplinary approach from allied medical professionals • Lifestyle modification • Genetic counseling |
MEDICAL MANAGEMENT OF EHLERS-DANLOS SYNDROME |
