COMMON CASES

Dr. Riyad Banayot

Dermatology cases

What do you see ?

Neurofibroma axillary freckles and café-au-lait spot

Café-au-lait spots

There are multiple café-au-lait spots and neurofibroma. There are also multiple freckles at the axilla. The eyelid may show ptosis or has abnormal shape due to the presence of plexiform neuroma.

NeurofibromatosisOther features: Proptosis in patient with absent lesser

sphenoid wing or optic glioma or meningioma

Lisch's nodules in the iris Astrocytic hamartoma on the retina

What is the inheritance of neurofibromatosis ?

Neurofibromatosis type I or type II, both are autosomal dominant.

Type I is carried on chromosome 17q11.2 Type II on chromosome 22.

Criteria are needed for the diagnosis of neurofibromatosis type I

The diagnosis is clinical, and requires the presence of Two or more of the following: 6 or more café-au-lait spots (diameter of 5 mm

in children and more than 15 mm in adults) Two or more neurofibromas or one plexiform

neurofibroma Freckles in t he axilla or the inguinal region Optic glioma Two or more Lisch's nodules A distinctive osseous lesion such as sphenoid

dysplasia or thinning of long bone cortex with or without pseudoarthroses

A parent, sibling or child with neurofibromatosis according to the above criteria.

What do you see ?

Right sided port-wine stain of the face and ipsilateral tissue hypertrophy in the distribution of the first and second division of the trigeminal nerve

Left-sided port-wine stain with red eye due to the presence of haemangioma of the conjunctiva

Sturge-Weber syndrome

The iris may be involved causing heterochromic iridis. Examine the anterior segment for hemangioma and the presence of trabeculectomyExamine the posterior segment for glaucomatous disc and choroidal haemangioma (this is diffuse and may cause exudative retinal detachment).

How Sturge-Weber's syndrome inherited ?

Unlike other Phakomatosis which has a hereditary tendency, Sturge-Weber's syndrome is a sporadic condition

What is responsible for the port-wine stain and can it be removed ?

These are caused by abnormal ectatic vessels in the dermis.

Removal can be achieved with photo-thermolysis using dye laser.

What do you see ?

Look for ash-leaf patches (hypopigmented areas which are best seen with Wood's light i.e. ultraviolet light).Examine the fundus for astrocytic hamartoma (Patients may have profound mental-retardation making fundal examination difficult).

Adenoma sebaceum (which is usually distributed in a butterfly pattern over the central face)

Subungual fibroma

Shagreen patches (these are localized thickening of the skin with a rough surface)

Tuberous sclerosis

What do you see ? There are hypopigmented

patches which show symmetrical distribution. 

Further examination: (the condition is associated with auto-immune disorders and may be seen in a variety of conditions which can have ocular association)

Vogt-Koyanagi-Harada's disease (in patient with uveitis, exudative retinal detachment and poliosis)

Sympathetic ophthalmitis (in patients with unilateral panuveitis and contralateral traumatized eye)

Thyroid eye disease Diabetes mellitus

Vitiligo

What do you see ?

Typical facial feature in acne rosacea Cornea neovascularization in rosacea keratitis

Acne rosacea

The face is red with telangiectasia, papules and pustules found mainly on the nose, cheeks and chin. The nose may have irregular thickening of the skin with large follicular orifices (rhinophyma). Look for: Blepharitis, meibomian gland dysfunction, keratitis.

Rosacea keratitis

Acne rosacea is a common skin condition of unknown origin.

Ocular involvement is common but most tend to be mild.

Ocular problems is more severe in males Eyelids show blepharo-conjunctivitis sometimes

with thick meibomian secretion (chalazion may be present)

There may be scars on the tarsal conjunctiva suggesting previous recurrent chalazion.

The cornea show pannus with or without peripheral corneal thinning.

There are subepithelial opacities especially inferiorly

How would you manage the ocular problem of acne rosacea ?

The lid problems include blepharitis and chronic meibomian inflammation. Lid hygiene and hot compresses are needed to keep

the lids comfortable. In severe cases, oral doxycycline is useful for a period

of 6 weeks but some patients may need the treatment for much longer.

The cornea problems are related to dry eyes, neovascularization and peripheral ulceration. Dry eyes can be controlled with lid hygiene and

artificial tears. Neovascularization results from chronic corneal

inflammation, and low dose steroid is useful but should be used with care due to the risk of perforation.

Peripheral ulceration may result from Staphylococcal hypersensitivity and the treatment involve lid hygiene and low dose combination of steroid and antibiotic.

Doxycycline/tetracycline has the tendency for binding to growing structures that require calcification (chiefly teeth and bones). These can result in unsightly staining of the teeth, dental hypoplasia and bone mal-development.

Doxycycline/tetracycline should be avoided in pregnant women and young children. It is also contraindicated in breast feeding women as the drug is secreted in breast milk.

A 3-month pregnant female develops severe blepharitis and keratitis secondary to acne rosacea. How would you treat her ?