GenodermatosisNeurofibromatosisTuberous sclerosisXeroderma pigmentosumIncontinentia pigmentiEhlers Danlos syndromePseudoxanthoma elasticum

NeurofibromatosisNeurofibromatosis::Autosomal dominant condition, affect about 1 Autosomal dominant condition, affect about 1 in 3000 peoplein 3000 people . .

There are many types, the most important two areThere are many types, the most important two are::11 . .Von Recklinghousen's neurofibromatosis (NF1) Von Recklinghousen's neurofibromatosis (NF1)

which accounts for 85% of caseswhich accounts for 85% of cases..22 . .Bilateral acoustic neurofibromatosis (NF2)Bilateral acoustic neurofibromatosis (NF2)..

Clinical featuresClinical features::11 . .Von Recklinghousen's neurofibromatosis Von Recklinghousen's neurofibromatosis

(NF1)(NF1):: * *Six or more café au lait patches (light brown Six or more café au lait patches (light brown

oval macules), usually developing in the first oval macules), usually developing in the first year of lifeyear of life..

* *Axillary freckling in two-thirds of affected Axillary freckling in two-thirds of affected individualsindividuals..

* *Variable numbers of skin Variable numbers of skin neurofibromasneurofibromas , ,--some small and superficial, others larger and some small and superficial, others larger and

deeperdeeper..--ranging from flesh-coloured to pink, purple ranging from flesh-coloured to pink, purple

or brownor brown..--some are firm, some soft and compressible some are firm, some soft and compressible

(button-hole sign)(button-hole sign)..--neurofibromas may not appear until puberty neurofibromas may not appear until puberty

and become larger and more numerous with ageand become larger and more numerous with age..

**Small cicular pigmented hamartomas of the Small cicular pigmented hamartomas of the iris (Lisch nodules)iris (Lisch nodules)..

Other featuresOther features;; --Neurofibroma will occasionally change into Neurofibroma will occasionally change into

neurofibrosarcomaneurofibrosarcoma , ,--Mental deficiencyMental deficiency,,

--EpilepsyEpilepsy , ,--Renal artery stenosisRenal artery stenosis..

--CNS tumors, e.g. intracranial tumorsCNS tumors, e.g. intracranial tumors..--Bone lesions, e.g. macrocephaly, kyphoscoliosis,Bone lesions, e.g. macrocephaly, kyphoscoliosis,

short statureshort stature..--Pheochromocytoma Pheochromocytoma hypertension hypertension..

--HypogonadismHypogonadism..

Criteria for diagnosis of NF-1Criteria for diagnosis of NF-1

The presence of 2 or more of these criteria is The presence of 2 or more of these criteria is

diagnostic.diagnostic.

--66 or more café-au-lait macules of >5 mm in prepubertal & or more café-au-lait macules of >5 mm in prepubertal & >15 mm in postpubertal>15 mm in postpubertal..

--22 or more neurofibromas or one plexiform neurofibromaor more neurofibromas or one plexiform neurofibroma..--Freckling in axilla or perineumFreckling in axilla or perineum..

--Optic gliomaOptic glioma..--22 or more Lisch nodulesor more Lisch nodules..

--Distinctive bony lesionDistinctive bony lesion..--A 1st degree relative with NF-1 by these criteriaA 1st degree relative with NF-1 by these criteria..

22 . .Bilateral acoustic neurofibromatosis Bilateral acoustic neurofibromatosis (NF2)(NF2)::

* *Bilateral acoustic neuromasBilateral acoustic neuromas.. * *Few, if any, cutaneous manifestationsFew, if any, cutaneous manifestations..

* *No Lisch nodulesNo Lisch nodules.. Other features; other tumours of the CNS Other features; other tumours of the CNS

specially meningiomas and gliomasspecially meningiomas and gliomas..

Tuberous sclerosisTuberous sclerosis::Autosomal dominant condition, affect Autosomal dominant condition, affect about 1in 12000 children under 10 yearsabout 1in 12000 children under 10 years .

It is characterized by triad of skin lesions It is characterized by triad of skin lesions

(usually angio-fibromas of face), mental (usually angio-fibromas of face), mental

retardation and epilepsy.retardation and epilepsy.

Clinical featuresClinical features::Skin changesSkin changes::

* *Small oval white patches (ash leaf macules) occur in Small oval white patches (ash leaf macules) occur in 80% of cases,important as they me the only 80% of cases,important as they me the only manifestation at birthmanifestation at birth..

* *Adenoma sebaceum (angio-fibromaAdenoma sebaceum (angio-fibroma)), occur in 85% , occur in 85% of cases, they develop at puberty as pink or yellowish of cases, they develop at puberty as pink or yellowish acne-like papules on the face, often around the noseacne-like papules on the face, often around the nose..

* *Peri-ungual fibromas occur in 50% of cases,develop Peri-ungual fibromas occur in 50% of cases,develop in adult life as pink sausage-like lesions emerging in adult life as pink sausage-like lesions emerging from the nail foldfrom the nail fold..

* *Connective tissue nevi (shagreen patches) are seen Connective tissue nevi (shagreen patches) are seen in 40% of cases. Cobblestone, yellow plaques often in 40% of cases. Cobblestone, yellow plaques often arise in the skin over the base of the spinearise in the skin over the base of the spine..

Systemic featuresSystemic features:: * *EpilepsyEpilepsy . .

* *Mental retardationMental retardation.. * *Ocular signs, including retinal phakomas and Ocular signs, including retinal phakomas and

pigmentary abnormalitiespigmentary abnormalities.. * *Hyperplastic gumsHyperplastic gums..

* *Gliomas and calcification of the basal gangliaGliomas and calcification of the basal ganglia.. tumours.tumours.* Renal and heart* Renal and heart

* * Cystic lesions of lung.Cystic lesions of lung.

Diagnosis:Diagnosis:-any baby with unexplained epilepsy should be -any baby with unexplained epilepsy should be examined with wood’s light to look for ash leaf examined with wood’s light to look for ash leaf maculesmacules-scull X-ray and CT scan help to exclude -scull X-ray and CT scan help to exclude

involvement of the CNS and kidneysinvolvement of the CNS and kidneys

Xeroderma pigmentosumXeroderma pigmentosum:: Autosomal recessive disorder, characterized by Autosomal recessive disorder, characterized by

the defective repair of DNA after its damage by the defective repair of DNA after its damage by UV radiationUV radiation . .

The condition is rare affecting about 5 per The condition is rare affecting about 5 per million in Europemillion in Europe..

Clinical featuresClinical features:: * * The skin is normal at birthThe skin is normal at birth..

* * Multiple freckles, roughness and Multiple freckles, roughness and keratosis on exposed skin appear between keratosis on exposed skin appear between the ages of 6 months and 2 years. the ages of 6 months and 2 years. Photosensitivity increases thereafterPhotosensitivity increases thereafter..

* * The atrophic facial skin shows The atrophic facial skin shows telangiectases and small angiomastelangiectases and small angiomas..

* *Many tumours develop on light-damaged skin; Many tumours develop on light-damaged skin; these include BCC, SCC, keratoacanthoma and these include BCC, SCC, keratoacanthoma and malignant melanoma. Many patients die before malignant melanoma. Many patients die before the age of 20 yearsthe age of 20 years..

* * Eye problems are common and include Eye problems are common and include photophobia, conjunctivitis and ectropionphotophobia, conjunctivitis and ectropion..

* * The condition may be associated with The condition may be associated with microcephaly, mental deficiency, dwarfism, microcephaly, mental deficiency, dwarfism, deafness and ataxiadeafness and ataxia..

TreatmentTreatment:: Skin cancers can be prevented by strict Skin cancers can be prevented by strict

avoidance of sunlight, early and complete avoidance of sunlight, early and complete removal of all tumours is essential. removal of all tumours is essential. Radiotherapy should be avoidedRadiotherapy should be avoided..

Incontinentia pigmentiIncontinentia pigmenti::

X-linked dominant disorder, usually lethal X-linked dominant disorder, usually lethal before birth in malesbefore birth in males..

Clinical features: There are three stages in the evolution of the skin

signs:1 .Vesicular; linear groups of blisters occur more on

the limbs than trunk.2 .Warty; after a few weeks the blisters dry up and the

predominant lesions are papules with a verrucous hyperkeratotic surface.

3 ,Pigmented; a whorled or splashed macular pigmentation, ranging from slate-grey to brown, replaces the warty lesions. Its bizarre patterning is a strong diagnostic pointer.

CNS defects;CNS defects; mental retardation, epilepsy mental retardation, epilepsy or microcephaly, skull and palatal or microcephaly, skull and palatal abnormalities may also be foundabnormalities may also be found..Dental defects;Dental defects; delayed dentition, total delayed dentition, total absence of teeth, the incisors may be cone-absence of teeth, the incisors may be cone-or peg-shapedor peg-shaped..Occular defects;Occular defects; strabismus, cataract and strabismus, cataract and optic atrophyoptic atrophy..

TreatmentTreatment:: This is symptomatic and includes measures This is symptomatic and includes measures

to combat bacterial and candidal infection to combat bacterial and candidal infection during the vesicular phaseduring the vesicular phase..

Ehlers-Danlos syndromeEhlers-Danlos syndrome:: Caused by the abnormalities in the formation Caused by the abnormalities in the formation

or modification of collagen and the extracellular or modification of collagen and the extracellular matrixmatrix..Clinical featuresClinical features::

* *Hyperelasticity of the skinHyperelasticity of the skin.. * *Hyperextensibility of the jointsHyperextensibility of the joints..

* *Fragility of skin and blood vesselsFragility of skin and blood vessels.. * *Easy bruisingEasy bruising..

* *Cigarette paper scarsCigarette paper scars..

ComplicationsComplications:: Subluxation of joints, varicose veins, Subluxation of joints, varicose veins,

increased liability to develop hernias, increased liability to develop hernias, kyphoscoliosis, aortic aneurysm and kyphoscoliosis, aortic aneurysm and raptured large arteries, and intraocular raptured large arteries, and intraocular hemorrhagehemorrhage..

•Gorlin’s sign: can touch nose with tongue, sign of hyperextensibility

Pseudoxanthoma elasticumPseudoxanthoma elasticum:: This is a disorder of elastic tissue most This is a disorder of elastic tissue most

obviously in the skin, blood vessels and eyes, obviously in the skin, blood vessels and eyes, either autosomal dominant or recessiveeither autosomal dominant or recessive..PathologyPathology::

The elastic fibers in the mid-dermis become The elastic fibers in the mid-dermis become swollen and fragmented; their calcification is swollen and fragmented; their calcification is probably a secondary featureprobably a secondary feature..

The elastic tissue of blood vessels and of the The elastic tissue of blood vessels and of the retina may also be affectedretina may also be affected..

Clinical featuresClinical features::

The skin of the neck and axillae, and The skin of the neck and axillae, and occasionally of other body folds, is loose and occasionally of other body folds, is loose and wrinkled. Groups of small yellow papules give wrinkled. Groups of small yellow papules give these areas a 'plucked chicken' appearancethese areas a 'plucked chicken' appearance..

Breaks in the retina show as angioid streaksBreaks in the retina show as angioid streaks . .

Arterial involvement may lead to peripheral, Arterial involvement may lead to peripheral, coronary or cerebral arterial insufficiencycoronary or cerebral arterial insufficiency..

ComplicationsComplications:: The most important areThe most important are

hypertentionhypertention , ,recurrent gut hemorrhagesrecurrent gut hemorrhages , ,ischemic heart diseaseischemic heart disease,,cerebral hemorrhagecerebral hemorrhage..

There is no effective treatmentThere is no effective treatment..