Ichthyosis: Symptoms, Complaints, Signs

The following symptoms and complaints may indicate ichthyosis:

Pathognomonic (indicative of disease).

  • Horny and scaly skin surface

Other symptoms (depending on the form)

  • Blistering
  • Erythroderma (redness of the skin)
  • Collodion membrane in the newborn (“collodion baby”) – hard, closed layer of skin that quickly tears, breaks open and peels off; under the collodion membrane is a very thin, reddened skin, which is later extremely dry and scaly
  • Rigidity (rigidity) of the skin
  • Painful rhagades (fissures; narrow, cleft-shaped tear that cuts through all layers of the epidermis (epidermal layer)); infections can develop in the cracks
  • Dry skin
  • Thickening of the cornea
  • Decreased sweating capacity → heat accumulation and tendency to collapse.
  • Scarring
  • Growth disorders of hair and nails

Ichthyosis vulgaris

The skin is inconspicuous at birth. Symptoms may appear delayed after a few months. The severity of scaling increases in this form of ichthyosis until puberty and decreases with age. Symptoms

  • Associated with atopic diathesis (predisposition to hypersensitivity reactions such as endogenous eczema, atopic eczema/neurodermatitis).
  • Diffuse-generalized skin infestation (diffuse = irregularly spread; generalized = affecting the whole body).
  • Firmly adherent scales, varying in size and color: clover-shaped-white to lamellar-brown.
  • No erythroderma (redness of the skin).
  • Keratoses (cornifications)
  • Non-inflammatory skin lesions
  • Pruritus (itching)
  • Dry and rough skin surface
  • Coarsened hand line pattern (“ichthyosis hand”).

Predilection sites: Extremities extensor sides, palms, soles of the feet; flexor sides (elbows, armpits, groin, popliteal fossa), face and trunk are less affected or free.

Improvement of symptoms is observed in the summer months.

X-linked recessive ichthyosis vulgaris (XRI)

The disease manifests in the first months of life. Symptoms

  • Eye symptoms such as corneal changes.
  • Infestation of the flexures of the joints possible
  • Birth complications such as weakness in labor, delayed birth, sectio (cesarean section).
  • Cryptorchidism (20% of cases) – absence of one or both testes in the scrotum (not palpable) or the testis has an intra-abdominal location (retentio testis abdominalis; abdominal testis) or is not present (anorchia)
  • Tendency to autism and attention deficit hyperactivity disorder (ADHD) (in 20-40%).
  • Placental disorders in pregnant women → abortion (miscarriage).
  • Rhomboid, brownish scales more pronounced than in the autosomal dominant form.

Lamellar ichthyosis

  • At birth, collodion-like skin sheath that sloughs off
  • Desquamation – superficial detachment of cells or groups of cells from their epithelial association.
  • Ectropion (outward inversion of the eyelid margin) by the tightly stretched facial skin.
  • Adherent scales, appearance varies: fine and light brown scaling or thicker, plate-like, very dark keratinization; the scales lie on top of each other like lamellae
  • Generalized skin infestation (affecting the whole body), including the flexures of the joints, palms and soles.
  • Skin redness can be, but does not have to be
  • Painful rhagades (fissures; narrow, slit-shaped crack that cuts through all layers of the epidermis (epidermis)); infections can develop in the cracks
  • Scarring alopecia (hair loss).
  • Growth disorders of hair and nails

Epidermolytic ichthyosis (bullous congenital ichthyosiform erythroderma Brocq)

  • Already in the womb, but at the latest shortly after birth, the strongly reddened epidermis (epidermis) detaches; the underlying skin layers are also strongly reddened (“scalded child”)
  • Blistering, which leaves no scars when healing.
  • Brownish, spiky, almost wart-like scales; affected mainly the flexor sides of the body
  • Increased hair and nail growth

Harlequin ichthyosis

  • Eclabium (inability to close the lips).
  • Ectropion (outward inversion of the lid margin).
  • Massive flexion contractures
  • Plate-like horn armor
  • Deep rhagades
  • Intrauterine: amniotic death, premature birth

Ichthyosis syndromes

In addition to skin manifestations, other organ systems are also affected. The following are two more well-known ichthyosis syndromes:

Comél-Netherton syndrome

  • Characteristic triad:
    • Congenital erythroderma (extensive reddening of the skin) without blistering with desquamation of the skin
    • Distinct (clear) defect of the hair shaft (trichorrhexis invaginata; TI; bamboo hair).
    • Atopy (tendency to hypersensitivity reactions) in the form of bronchial asthma, eczema and allergic rhinitis (hay fever).
  • Later ring-, arc- linear, reddened foci of skin and typical double scale margin (“ichthyosis linearis cicumflexa).

Sjögren-Larsson syndrome

  • Flexural side-bearing, yellowish keratoses (keratinization).
  • Developmental disorder, e.g., affecting speech.
  • Epilepsy possible
  • Extracutaneous symptoms with spasticity (increased muscle tone).
  • Generalized skin involvement (affecting the entire body).
  • Macular degeneration