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