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A 6-year-old boy is referred to dermatology for evaluation of his dry, thin skin. Since birth, it has frequently torn, and it burns with the application of almost any product or soap. Neither OTC nor prescription products have helped.
The boy is reportedly in good health otherwise and is not atopic. Nonetheless, two of his siblings are similarly affected, and there is a strong family history of similar dermatologic problems on his father’s side. He and his family are from Mexico and have type IV skin.
EXAMINATION
The patient is in no distress but does complain about his skin problems. His skin is quite thin and dry, and fine scaling covers his palms, face, legs, trunk, and scalp. In short, none of his skin looks normal. The skin on his legs is especially scaly and has a pronounced reticulated appearance.
His fingernails are dystrophic, with transverse ridging and a loss of connection between the cuticles and nail plates.
What is the diagnosis?
Ichthyosis vulgaris (IV) is one of a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together. This breakdown can lead to excessive water loss, as well as vulnerability of skin to penetration by allergens and other noxious substances.
IV is by far the most common variation, comprising at least 95% of all ichthyosiform dermatoses. It results from an inherited abnormality of epidermal differentiation or metabolism; affected patients have a higher incidence of eye problems (eg, keratitis, cataracts) in addition to their skin problems.
A total of 28 types of ichthyosis have been described, many of which are part of larger syndromes (such as keratitis-ichthyosis-deafness syndrome or Netherton syndrome). Another uncommon type, X-linked recessive ichthyosis, manifests in about 1 in 5,000 births; these patients improve dramatically in the summertime with additional sun exposure.
Ichthyosis manifests with varying degrees of severity. While this case is fairly severe, the worst cases (Harlequin and lamellar forms) begin at birth with a nearly absent stratum corneum.
This patient and his family were advised on the use of emollients and avoidance of excessive drying of skin. They were also strongly encouraged to seek genetic counseling.
TAKE-HOME LEARNING POINTS
- Ichthyosis is a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together.
- The resultant water loss can leave skin vulnerable to penetration by allergens and other noxious substances.
- Ichthyosis vulgaris is by far the most common member of this family of disorders, comprising more than 95% of cases.
- Heavy emollients and avoidance of drying constitute the bulk of treatment efforts.
A 6-year-old boy is referred to dermatology for evaluation of his dry, thin skin. Since birth, it has frequently torn, and it burns with the application of almost any product or soap. Neither OTC nor prescription products have helped.
The boy is reportedly in good health otherwise and is not atopic. Nonetheless, two of his siblings are similarly affected, and there is a strong family history of similar dermatologic problems on his father’s side. He and his family are from Mexico and have type IV skin.
EXAMINATION
The patient is in no distress but does complain about his skin problems. His skin is quite thin and dry, and fine scaling covers his palms, face, legs, trunk, and scalp. In short, none of his skin looks normal. The skin on his legs is especially scaly and has a pronounced reticulated appearance.
His fingernails are dystrophic, with transverse ridging and a loss of connection between the cuticles and nail plates.
What is the diagnosis?
Ichthyosis vulgaris (IV) is one of a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together. This breakdown can lead to excessive water loss, as well as vulnerability of skin to penetration by allergens and other noxious substances.
IV is by far the most common variation, comprising at least 95% of all ichthyosiform dermatoses. It results from an inherited abnormality of epidermal differentiation or metabolism; affected patients have a higher incidence of eye problems (eg, keratitis, cataracts) in addition to their skin problems.
A total of 28 types of ichthyosis have been described, many of which are part of larger syndromes (such as keratitis-ichthyosis-deafness syndrome or Netherton syndrome). Another uncommon type, X-linked recessive ichthyosis, manifests in about 1 in 5,000 births; these patients improve dramatically in the summertime with additional sun exposure.
Ichthyosis manifests with varying degrees of severity. While this case is fairly severe, the worst cases (Harlequin and lamellar forms) begin at birth with a nearly absent stratum corneum.
This patient and his family were advised on the use of emollients and avoidance of excessive drying of skin. They were also strongly encouraged to seek genetic counseling.
TAKE-HOME LEARNING POINTS
- Ichthyosis is a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together.
- The resultant water loss can leave skin vulnerable to penetration by allergens and other noxious substances.
- Ichthyosis vulgaris is by far the most common member of this family of disorders, comprising more than 95% of cases.
- Heavy emollients and avoidance of drying constitute the bulk of treatment efforts.
A 6-year-old boy is referred to dermatology for evaluation of his dry, thin skin. Since birth, it has frequently torn, and it burns with the application of almost any product or soap. Neither OTC nor prescription products have helped.
The boy is reportedly in good health otherwise and is not atopic. Nonetheless, two of his siblings are similarly affected, and there is a strong family history of similar dermatologic problems on his father’s side. He and his family are from Mexico and have type IV skin.
EXAMINATION
The patient is in no distress but does complain about his skin problems. His skin is quite thin and dry, and fine scaling covers his palms, face, legs, trunk, and scalp. In short, none of his skin looks normal. The skin on his legs is especially scaly and has a pronounced reticulated appearance.
His fingernails are dystrophic, with transverse ridging and a loss of connection between the cuticles and nail plates.
What is the diagnosis?
Ichthyosis vulgaris (IV) is one of a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together. This breakdown can lead to excessive water loss, as well as vulnerability of skin to penetration by allergens and other noxious substances.
IV is by far the most common variation, comprising at least 95% of all ichthyosiform dermatoses. It results from an inherited abnormality of epidermal differentiation or metabolism; affected patients have a higher incidence of eye problems (eg, keratitis, cataracts) in addition to their skin problems.
A total of 28 types of ichthyosis have been described, many of which are part of larger syndromes (such as keratitis-ichthyosis-deafness syndrome or Netherton syndrome). Another uncommon type, X-linked recessive ichthyosis, manifests in about 1 in 5,000 births; these patients improve dramatically in the summertime with additional sun exposure.
Ichthyosis manifests with varying degrees of severity. While this case is fairly severe, the worst cases (Harlequin and lamellar forms) begin at birth with a nearly absent stratum corneum.
This patient and his family were advised on the use of emollients and avoidance of excessive drying of skin. They were also strongly encouraged to seek genetic counseling.
TAKE-HOME LEARNING POINTS
- Ichthyosis is a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together.
- The resultant water loss can leave skin vulnerable to penetration by allergens and other noxious substances.
- Ichthyosis vulgaris is by far the most common member of this family of disorders, comprising more than 95% of cases.
- Heavy emollients and avoidance of drying constitute the bulk of treatment efforts.
