No abstract available.
Humans ; Ichthyosis ; Ichthyosis, Lamellar

No abstract available.
Ichthyosis, Lamellar*

No abstract available.
Ichthyosis, Lamellar*

Harlequin ichthyosis (HI) is a rare type of congenital keratinization disorder that, when left untreated, usually leads to early neonatal demise. A clinical diagnosis of HI is considered when a patient presents with thick plate-like scaling of the skin together with eclabium, ectropion, and nasal hypoplasia. The diagnosis can be confirmed by genetic testing to determine mutation in the adenosine triphosphate-binding cassette A12 (ABCA12) gene. Early administration of systemic retinoids to promote desquamation and emollients to control excessive scaling and dryness of the skin lead to better prognosis in most cases of HI. We present the case of a 4-year-old male with HI who has been successfully managed with bland emollients and systemic acitretin therapy, which we started when he was 1 year old.
Ichthyosis, Lamellar

Although acquired ichthyosis has been associated with a number of systemic illnesses, an association with sarcoidosis has rarely been reported. We report a patient with aquired ichthyosis of the lower and upper extrimities whose diagnosis of cutaneous sarcoidosis was confirmed by histologic examination. Systemic involvement in the patient revealed occular, pulmonary and nerve disease. A diagnosis of sarcoidosis must be considered when a patient presents with acquired ichthyosis.
Diagnosis ; Humans ; Ichthyosis ; Sarcoidosis*

Introduction: Harlequin ichthyosis (HI) is a rare type of autosomal recessive congenital ichthyosis. There are approximately 200 documented cases worldwide, with less than five published reports in the Philippines. Despite its rarity, current literature suggests a better prognosis for these patients. Case description: We describe a preterm male newborn who presented at birth enclosed in a thick hyperkeratotic armor-like scale plates with areas of fissures, with associated ectropion, conjunctiva dehiscence, and eclabium. The thickened encasement also covered the hands and feet, causing severe contractures. A diagnosis of harlequin ichthyosis was given based on the clinical features. The patient was managed through a multidisciplinary approach, including referral to the tele-ichthyosis platform of a US-based foundation for patients with ichthyosis. Thermoregulation, nutrition, and hydration were carefully managed. Bland emollients were applied generously following normal saline soaks to improve barrier protection. Acitretin was administered on day 2 of life to facilitate the desquamation of the thickened encasement. A marked decrease in erythema and the thickness of the hyperkeratotic skin, and reduced conjunctival dehiscence were noted after one week of therapy. However, the constrictions on the hands and feet showed bluish discoloration and signs of necrosis. Linear band excision was performed to release the constrictors. Despite aggressive management, the patient succumbed to sepsis on day 12 of life. Conclusion Improved prognosis amongst HI patients is correlated with optimal quality of care regardless of resource limitations. A multidisciplinary approach and early administration of retinoids cannot be overemphasized. Linear band excision within the first week of life is suggested for constrictions on the extremities that do not improve with retinoids to avoid necrosis and autoamputation.
Ichthyosis, Lamellar ; Acitretin

Two cases of xeroderma pigmentosum in brothers without complicated by malignant changes were presented. The clinical and histopathological studies revealed characteristic features of the disease and literatures reviewed.
Humans ; Ichthyosis* ; Siblings* ; Xeroderma Pigmentosum*

Two cases of xeroderma pigmentosum in brothers without complicated by malignant changes were presented. The clinical and histopathological studies revealed characteristic features of the disease and literatures reviewed.
Humans ; Ichthyosis* ; Siblings* ; Xeroderma Pigmentosum*

No abstract available.
Diagnosis* ; DNA* ; Ichthyosis* ; Xeroderma Pigmentosum*

The Harlequin fetus-ichthyosis fetalis-is known to be rare. Recently, we experienced a case of Harlequin fetus in stillborn infant due to autosomal recessive inheritance likely. A review of literature was done briefly.
Humans ; Ichthyosis, Lamellar* ; Infant ; Wills