Makindo Medical Notes.com

Related Subjects: |Nikolsky's sign |Koebner phenomenon |Erythema Multiforme |Pyoderma gangrenosum |Erythema Nodosum |Dermatitis Herpetiformis |Lichen Planus |Acanthosis Nigricans |Acne Rosacea |Acne Vulgaris |Alopecia |Vitiligo |Urticaria |Basal Cell Carcinoma |Malignant Melanoma |Squamous Cell Carcinoma |Mycosis Fungoides (Sezary Syndrome) |Xeroderma pigmentosum |Bullous Pemphigoid |Pemphigus Vulgaris |Seborrheic Dermatitis |Pityriasis/Tinea versicolor infections |Pityriasis rosea |Scabies |Dermatomyositis |Toxic Epidermal Necrolysis |Stevens-Johnson Syndrome |Atopic Eczema/Atopic Dermatitis |Psoriasis

About

• Rare inherited skin condition characterised by the loss of binding (acantholysis) between skin surface cells and there is also some thickening of the skin.
• Also known as Keratosis Follicularis. The nails and mouth may also be affected.

Genetics

• It is inherited in a pattern known as autosomal dominant inheritance.
• Occasionally occurs de Novo or because the disease is so mild in parents

Aetiology

• Abnormality in the gene involved in calcium transport within cells. The defective calcium transport leads to reduced cell binding. Normally, in the outer layer (epidermis) of the skin, the skin cells are held together like bricks cemented in a wall.
• In Darier's disease the sticky junctions that hold the skin cells together are not made properly, and the skin may be easily irritated and becomes inflamed and weeping.
• It can be made worse by sunlight, skin friction, excessive sweating, and secondary infection. Some women are aware of their skin flaring before their period.

Clinical

• Mild disease may go unnoticed and undiagnosed
• Skin itching and soreness and may smell unpleasant in moist areas.
• Increased bacterial and viral skin infections e.g. HSV
• The skin rash usually appears in childhood / teenage years
• Rash involves the areas of the skin where there is the most grease production (sebaceous areas) which typically include the face, scalp, chest, neck, and upper back.
• Rash varies from small scattered, slightly greasy brownish, yellowish or red papules (small lumps) to larger thickened patches that may be scaling.
• Skin folds particularly in the groin area and underneath the breast are also often affected and in these areas, the skin can become raw and weepy.
• Nail changes and/or flat "warts" on the backs of the hands are often present in childhood

Investigations

• Skin biopsy: will confirm diagnosis

Management

• No, there is no cure, but it improves with age. Sun may cause Darier's disease to flare up. Some women notice that it worsens around the time of their periods.
• If there are no symptoms, treatment is not required. Simple measures such as wearing cotton clothing, minimising sweating and using sun protection may reduce flares.
• Topical treatments: Moisturising creams may help itching and irritation. Corticosteroid creams are helpful if the skin is very itchy. Antibiotic creams can be used if the skin becomes infected. Careful washing is important and in addition, antiseptic solutions for the bath, and antiseptic creams may help, particularly if there is a problem with odour.
• For localised disease, topical retinoid creams may be helpful. However, irritation is a limiting factor, so emollients and topical corticosteroids can be used in combination with these to reduce irritation.
• Topical 5-fluorouracil, which is used to treat other skin conditions (e.g. Actinic Keratosis), has been used effectively in some cases of Darier's disease.
• Oral Treatments: If a secondary bacterial infection is severe, oral antibiotics may be required and cold sore infections (herpes simplex) require treatment with oral acyclovir.
• For more severe disease treatment with Retinoid tablets such as Acitretin or Isotretinoin may be tried. Ciclosporin is sometimes used to help control Darier's disease. You can discuss these with your dermatologist.

Other useful treatments:

• Laser treatment of very thick areas has been reported to be successful.
• Photodynamic therapy that is used to treat other skin conditions (e.g. Actinic Keratosis) has been used effectively in some cases of Darier's disease.
• Surgical excision or Dermabrasion (removing surface layers) of very thick areas has been used occasionally.