Metabolic Disorders | Medibuddy
10th July 2023

Metabolic Disorders

The Porphyrias

The classic skin manifestations of porphyrias are blister formation, photosensitivity, scarring with milia and hypertrichosis.

Type Description
Porphyria cutanea tarda
  • Most common (80% acquired)
  • Blisters and erosions occur in areas exposed to the sun
  • Reduced levels of uroporphyrinogen decarboxylase
  • Often provoked by hepatotoxic factors

i.e., alcohol, oestrogens, hepatitis C, iron, and lead

  • Treatment – chloroquine – (serum ferritin guides therapy)
Acute intermittent porphyria
  • No cutaneous manifestations
Congenital erythropoietic porphyria
  • Brown teeth which appear red under Wood’s light (often referred to as the ‘werewolf’)

Table 1: Types of porphyrias

Diabetes

Diabetes can often present with a wide range of cutaneous signs, such as necrobiosis lipoidica, granuloma annulare, diabetic rubeosis, diabetic dermopathy, candidiasis, vitiligo, and neuropathic foot ulcers.

  • Diabetic dermopathy presents with dark red papules that eventually become atrophic and is associated with a long duration of diabetes mellitus.
  • Necrobiosis lipoidica (waxy yellow lesions) mainly affects the shins and is associated with telangiectasia
  • Granuloma annulare present as papules with central depression.

Acanthosis nigricans

Often described as dark, thick, velvety patches that present in skin folds, namely the underarms, neck, and groin. It often indicates an underlying health concern, such as internal malignancy, acromegaly, Cushing syndrome, obesity, insulin resistant diabetes or hypothyroidism. It can also be seen in those that take the oral contraceptive pill. Acanthosis nigricans can be familial.

Thyroid disease

Hypothyroidism
  • Dry, coarse skin with pale, cold peripheries
  • Eczema craquele – dermatitis that leads to splitting of the skin
  • Sparse brittle hair
  • Myxoedema
  • Carotenoderma
  • Brittle nails
Hyperthyroidism
  • Warm, moist peripheries
  • Flushing of the face
  • Fine, soft scalp hair
  • Onycholysis
  • Generalised pruritus
  • Urticaria

Table 2: Thyroid disease and its cutaneous manifestations

Mobile app screenshots

Take your subscriptions with you

Our mobile app allows you to access your interview and exam question banks wherever you are.