Dermatology

Theme : Skin and Hair abnormalities A. Alopecia areata B. Dermatitis artefacta C. Trichotillomania D. Aplasia cutis E. Sutural alopecia F. Ectodermal dysplasia G. Acrodermatitis enteropathica H. Menkes inky hair !. Trichorrhe"is nodosa #. Telo$en Efflu%ium Select one option from the list above that is most suitable for the following patients 1) A $enetic syndrome resultin$ in a&normal dentition and ichthyosis F. Ectodermal dysplasia

Note: Ectodermal dysplasia is an ' linked recessi%e condition (ith features of alopecia) hypodontia and a defect in s(eatin$. These indi%iduals ha%e characteristic facies. ) A *+ year old $irl (ith a history of emotional difficulties presents (ith linear markin$s to her forearms and an inconsistent history. B. Dermatitis artefacta

Note: Dermatitis artefacta) skin lesions are deli&erately produced &y patients (ho conceal this fact from their doctors. The condition is usually found in indi%iduals (ith emotional difficulties arisin$ from a disorder of personality. !) A con$enital diffuse cause of hair loss due to an a&normality of the hair shaft (ith a child (ith intracta&le sei,ures. H. Menkes inky hair

Note: Menkes) kinky hair syndrome is a pro$ressi%e cere&ral deterioration associated (ith sei,ures and t(isted fractured hair. !t is ' linked recessi%e and the underlyin$ aetiolo$y is an a&normality of Copper transport resultin$ in lo( Copper and lo( Caeruloplasmin.

Theme : "enetics # clinical abnormalities of limbs A. Bloom-s syndrome B. Cockayne-s syndrome C. Do(n-s syndrome D. Ehlers Danlos syndrome E. Hunter-s syndrome F. .rader/0illi syndrome G. 1u&instein/Tay&i syndrome H. 1ussell Sil%er syndrome !. Sotos- syndrome #. 0illiams syndrome

$n a child with a suspected genetic disorder and the following clinical abnormalities choose the single most likely diagnosis from the list of options% 1) Simian creases C. Do(n-s syndrome

Note: Simian creases are found in appro"imately 2+3 of &a&ies (ith Do(n-s syndrome. This is a sin$le hori,ontal palmer crease. 4+3 of affected indi%iduals ha%e a distal positionin$ of the palmer a"ial tri/ radius. Also a syndrome -Sandal $ap- is found. This is (ide $ap &et(een the first and second toes. .lantar creases &et(een the first and second toes are usually deep and there is characteristic dermal rid$e pattern.

) Broad thum&s and toes.

G. 1u&instein/Tay&i syndrome

Note: Children (ith 1u&instein/Tay&i syndrome are short in stature) (hich has a post/natal onset. They tend to ha%e do(n(ard slantin$ palpa&le fissures and a hypoplastic mandi&le. E"amination of the lim&s may re%eal &road thum&s and toes) flat feet and deep plantar creases.

!) 5ar$e hands and feet and a hi$h arched palate.

!. Sotos- syndrome

Note: Sotos- syndrome is also called cere&ral $i$antism. Birth len$th is usually o%er the 67th centile and there is rapid linear $ro(th there on. !ndi%iduals ha%e lar$e hands and feet and macrocephaly. They ha%e do(n(ard slantin$ eyes and a hi$h arched palate and most children (ith Sotos- syndrome ha%e learnin$ difficulties.

&omments: E"amination of the hand sand feet are important in the assessment of a dysmorphic infant. Theme : &utaneous manifestations of disease A. oplik Spots B. Erythema Multiforme C. Erythema nodosum D. Dermatitis Herpetiformis E. 8itili$o F. Gottron-s papules G. Alopecia areata H. Mycosis Fun$oides !. Dermatitis artefacta #. Caf9 au lait spots 'or each of the following diseases choose the most specific mucuous or cutaneous manifestation from the list of options% 1) Addison-s disease E. 8itili$o

Note: 8itili$o is a disorder resultin$ from insufficiency of melanocytes deposited in the skin. !t is associated (ith auto/immune conditions. ) Cutaneous T/cell lymphoma H. Mycosis Fun$oides

Note: Mycosis Fun$oides is acute alias T/cell lymphoma often presentin$ as superficial patchy dermatitis (hich is then de%eloped in to tumours. !) Coeliac disease D. Dermatitis Herpetiformis

Note: Dermatitis herpetiformis is a pruritic fascicular rash found on el&o(s) shoulder) &uttocks and knees and is associated (ith Coeliac disease.

Theme : Skin and Hair abnormalities A. Alopecia areata B. Dermatitis artefacta C. Trichotillomania D. Aplasia cutis E. Sutural alopecia F. Ectodermal dysplasia G. Acrodermatitis enteropathica H. Menkes inky hair !. Trichorrhe"is nodosa #. Telo$en Efflu%ium Select one option from the list above that is most suitable for the following patients 1) A con$enital cause for localised hair loss. D. Aplasia cutis

Note: Aplasia cutis is a localised defect (ith the scalp. This can &e an isolated findin$ althou$h has &een associated (ith Trisomies) particularly .atau syndrome ) An ac:uired localised area of hair loss related to Tinea capitis (% (lopecia areata

Note: Alopecia areata is a local area of hair loss in this case secondary to underlyin$ rin$(orm. !) An ac:uired course of hair loss resultin$ from an emotionally distur&ed teena$er. C. Trichotillomania

Note: Trichotillomania is a term for hair loss as a result of pullin$ of his;her o(n hair out) there is often a history of emotional difficulties.

Theme : &utaneous manifestations of disease A. oplik Spots B. Erythema Multiforme C. Erythema nodosum D. Dermatitis Herpetiformis E. 8itili$o F. Gottron-s papules G. Alopecia areata H. Mycosis Fun$oides

!. Dermatitis artefacta #. Caf9 au lait spots 'or each of the following diseases choose the most specific mucuous or cutaneous manifestation from the list of options% 1) Measles (% )oplik Spots

Note: oplik spots are of patho$nomonic measles found on the &uccal mucosa mem&rane and resem&les coarse $ranules of salt. ) Dermatomyositis F. Gottron-s papules

Note: Gottron-s papules are patho$nomonic for Dermatomyositis. They are inflammatory papules found o%er the dorsal interphalan$eal <oints and they &ecome %iolaceous in colour and flattened &efore they atrophy to lea%e. !) Ste%ens/#ohnson syndrome B. Erythema Multiforme

Note: Hypopi$mentation = Erythema multiforme ma<or is also kno(n as Ste%ens/#ohnson syndrome. !t is a serious systemic disease (hich in%ol%e the t(o mucous mem&ranes plus skin. >ften follo(s respiratory symptoms and is associated (ith a con<uncti%itis) u%eitis and &ullae. !t may result in fluid loss) (eakness as (ell as anaemia and neutropenia.