Metabolic & Nutritional Disorders in Dermatology

By: Dr. Kazhan Ali Tofiq Kadir

April 2014

The following is a summary of Metabolic and Nutritional Disorders most commonly encountered in practice which manifest themselves by changes in the skin

hyperlipidaemia Skin manifestations of hyperlipidaemia

include: flat yellow deposits around the eye (xanthelasma). Elsewhere on the body they present as yellowish papules or nodules called xanthoma. Sudden eruptions can appear in large numbers over the buttocks, trunk and limbs, or a few larger lesions can develop on the elbows, knees, hands and over the Achilles tendon.

Skin Manifestation in DM :Diabetic Dermopathy

Asymptomatic, resolve spontaneously leaving a scar usually following improved blood glucose control.Usually occurs in older diabetic patients who have had diabetes >10 years.

Occurs more frequently in diabetic patients with retinopathy, neuropathy, and nephropathy.Can be indicator of poor control of blood glucose levels.

Necrobiosis Lipoidica Diabeticorum

Degenerative disease of collagen in the dermis and subcutaneous fat with an atrophic epidermis.Precedes onset of diabetes in 15-20% of patientsLesions progress to ulcers if predisposed to traumaLocation :

85% anterior aspect-pretibial region of lower extremeties, 15% hands, forearms, face, scalp

Diabetic Bullae Blisters occur spontaneously in diabetic patients, atraumatic/asymptomatic lesions on feet and legs.Patients tend to have adequate circulation in the affected extremities and peripheral neuropathy.

Three types of Diabetic Bullae :-Most common: Sterile fluid

containing that heal without scarring .

-Hemorrhagic, heals with scarring.

-Multiple nonscarring on sun exposed/tan skin .

Amyloidosis Amyloidosis appears in middle age with

bruising, petechiae and purpura related to deposition of amyloid in the dermal blood supply. This is most frequently seen in the anogenital, periorbital and peri-umbilical regions, at the side of the neck and in the axillae. Atrophic waxy lesions with areas of purpura inside them may sometimes be seen, or as shiny smooth firm flat topped papules of waxy colour .

History :usually are asymptomatic.single or multiple lesions.Physical :

Firm nodules can present anywhere on the skin, including the face, scalp, extremities, trunk, and genitalia.vary from a few millimeters to a few centimeters.pink to brown or red. waxy, purpuric, yellowish, or bullousLesions tend not to ulcerate.Macroglossia, a typical feature of systemic amyloidosis.

TREATMENT Medical Care: topical and intralesional Cs, cryotherapy, dermabrasion, shaving, curettage and electrodesiccation, CO2 laser, and PDL .Surgical Care :

excision and curettage and electrodesiccation have provided satisfactory cosmetic results.None of these treatment methods totally eradicates lesions, which can recur.

The tips of the fingers may exhibit softening and loosening of the skin

Cutaneous amyloidosis is associated with various autoimmune/immune disorders and associations with sarcoidosis and IgA nephropathy have been reported .

Background: acanthosis nigricans (AN) There is association between AN and insulin resistance, obesity & malignancyPathophysiology :

is caused by factors that stimulate epidermal keratinocyte and dermal fibroblast proliferation .

In the benign AN, the factor is probably insulin or an insulinlike growth factor that incites the epidermal cell propagation .

In malignant AN, the stimulating factor is hypothesized to be a substance secreted either by the tumor or in response to the tumor .

Exogenous medications also have been implicated as etiologic factors.

ACANTHOSIS NIGRICANS : PAPILLOMATOSIS, CONFLUENT & RETICULATED

intertriginous velvety hyperigmentation and discrete and confluent reticulated brown minimally scaly papules and patches

This 15-year-old girl complained of dark spots on her chest, abdomen, and back and velvety darkening of her skin creases for over a year .

PorphyriaThere are a number of different forms of porphyria, e.g. porphyria cutanea tarda, erythropoietic

porphyria…All are characterized by photosensitivity, with fragility and blistering of the skin when exposed to sunlight or ultraviolet rays .

Porphyrias Porphyria Cutanea Tarda

Porphyria ErythropoieticProtoporphyria Erythropoietic

Porphyria Variegate

are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway) .

They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors) .accumulation of the porphyrins manifest with either

1 -Skin problems or with 2 -Neurological complications

( or occasionally both.)

Physical: PCTThe most common presenting sign of PCT is fragility of sun-exposed skin after mechanical trauma, leading to erosions and bullae, typically on hands and forearms and occasionally on face or feet .

Healing of crusted erosions and blisters leaves milia, hyperpigmented patches, and hypopigmented atrophic scars.Hypertrichosis is often observed over temporal and malar facial areas and may also involve arms and legs.Pigmentary changes include melasmalike hyperpigmentation of the face.

An erythema or plethora of the central face, neck, upper chest, and shoulders may be present.

PORPHYRIA CUTANEA TARDA 2-4 mm vesicles and crusts

This middle age man developed increasing skin fragility, blistering and crusting in sun exposed areas particularly the tops of the hands

TREATMENT: Medical Care :Sunlight avoidance is the main defense for photosensitivity until clinical remission can be induced .Alcohol must be proscribed .

Estrogen use should be discontinued, After achievement of remission, estrogen therapies may be cautiously reinstituted; however, the duration of remissions may be shortened .

Remissions may last from several months to many years. If symptoms recur, re-treatment can restore remissions.

Therapeutic phlebotomy reduces iron stores, which improves heme synthesis disturbed .

The goal of therapy is to reduce serum ferritin levels to the lower limit of the reference range .

Venesections are scheduled at intervals ranging from a unit of whole blood removed twice weekly to every 2-3 weeks as tolerated by the patient. Care is given to not induce anemia .

Phlebotomy is the preferred therapy for individuals with a heavy iron burden .

In patients in whom phlebotomy is not convenient or is contraindicated and in those who have relatively mild iron overload, oral chloroquine phosphate (125-250 mg PO twice weekly) or hydroxychloroquine sulfate (200-400 mg PO 2-3 times/wk), is often effective .

Larger doses can cause severe hepatotoxicity. Even low-dose regimens can occasionally produce hepatic toxicity, and careful monitoring is indicated. Some clinicians begin with a single, small test dose.

Chelation with desferrioxamine is an alternative means of iron mobilization when venesections are not practical.

DISORDERS DUE TO VITAMIN DEFICIENCY

Vitamin A Phrynoderma, xerophthalmia, night blindness,keratomalacia.

Vitamin D Rickets, osteomalacia

Vitamin E Haemolytic anaemia, ataxia

Vitamin K Purpura, haemorrhage, ecchymosis.

CLINICAL FEATURES of Vit. A def. IN SKIN

Morphology of the lesion is variable may range from filiform papule to small conical papule to large papule with large horny centre,

Color may similar to surrounding skin or may be slightly hyper pigmented Back ground skin in affected area is wrinkled Hands & feet are not involved .

MANAGEMENT General management –

improvement of diet .Antibiotic if there is infection.Special–

Treatment with vitamin A in deficient cases .

Treatment with other specific vitamins according to need .

TREATMENT (CONTD.) PhrynodermaLocal application of 10-40 % Urea

cream &50,000 units of Vitamin A twice a

day orally can make the lesion disappear in 2-3 months.

DISORDERS DUE TO VITAMIN DEFICIENCY (Contd.)

Thiamin (Vitamin B1) Beri-beri

Riboflavin (VitaminB2)

Oro-ocular-genital syndrome (glossitis, stomatitis etc.)

Niacin (Vitamin B3) Pellagra.

Vitamin B6

(Pyridoxine)Polyneuropathy

Biotin Dermatitis, alopecia,paraesthesiae.

What is pellagraVitamin deficiency disorderCaused by lack of niacin (B3) or tryptophanSymptomsHigh sensitivity to sunlight Dermatitis, alopecia, oedema Smooth, beefy red glossitis, skin lesionsInsomnia Weakness Mental confusion Ataxia, paralysis of extremities, peripheral neuritis Diarrhea

DISORDERS DUE TO VITAMIN DEFICIENCY (Contd.)

Folate AnaemiaVitamin B12 (Cobalamin)

Glossitis, hyperpigmentation.

Vitamin-C (Ascorbic acid)

Scurvy (swollen and bleeding gums, redness and swelling in recently healed wounds (new wounds may fail to heal)easily bruised skin

DISORDERS DUE TO MINERAL DEFICIENCY

Iron Anaemia, glossitis, cheilosis, koilonychia.

Zinc Acrodermatitis enteropathica

ACRODERMATITIS ENTEROPATHICA

Acrodermatitis enteropathica (AE) is a rare inherited disorder transmitted as an autosomal recessive trait, caused by defective intestinal absorption of Zn, characterized by a triad of acral dermatitis, alopecia and diarrhea.

Acrodermatitis Enteropathica

Acrodermatitis Enteropathica

Acrodermatitis Enteropathica

Sharply demarcated, brightly erythematous periorificial plaque in an infant with acrodermatitis

enteropathica.

Frequency: AE 1 in 500,000

Mortality/Morbidity :AE is lethal, usually within the first few years of life, if left untreated .Race: No racial predilection exists .Sex: No sexual preference exists .Age :

- in the first few months after birth or - after cessation of breastfeeding .

TREATMENT of AE Medical Care & MEDICATION :

greater than 1-2 mg/kg of oral zinc supplementation per day for life .Prognosis :

Further progression and even death may occur if AE is left untreated.

Thank You