ABSTRACT
CARD14-associated papulosquamous eruption (CAPE) was proposed in 2018 to describe the clinical features of psoriasis and pityriasis rubra pilaris with CARD 14 mutations. We report a 5-month-old female infant who developed CAPE-associated erythroderma. Although she did not respond to conventional therapies, she responded well to ustekinumab treatment at the age of 4 years.
Subject(s)
Dermatitis, Exfoliative , Exanthema , Pityriasis Rubra Pilaris , Psoriasis , Child, Preschool , Female , Humans , Infant , CARD Signaling Adaptor Proteins/genetics , Dermatitis, Exfoliative/diagnosis , Dermatitis, Exfoliative/drug therapy , Exanthema/drug therapy , Guanylate Cyclase/genetics , Guanylate Cyclase/therapeutic use , Membrane Proteins/therapeutic use , Pityriasis Rubra Pilaris/diagnosis , Pityriasis Rubra Pilaris/drug therapy , Psoriasis/diagnosis , Psoriasis/drug therapy , Psoriasis/genetics , Ustekinumab/therapeutic useABSTRACT
Leiner's disease (LD) is a rare and serious syndrome of infantile erythroderma of severe and progressive generalized seborrheic-like dermatitis, recalcitrant diarrhea, malabsorption and wasting, and recurrent local and systemic infections. The purpose of this study is to provide an updated review on management with a summarized review of available peer-reviewed articles on LD. The mechanisms underlying this disease process remain unclear. The diagnosis includes demonstration of deficient opsonic activity along with the clinical tetrad of erythroderma, persistent gastrointestinal disturbance, superimposed bacterial or candidal infection, and marked wasting. An important correlation between LD and defective yeast and Staphylococcus aureus opsonization has been established. For the familial form of LD, an association of either complement three deficiency or complement five dysfunction has been made. LD should be distinguished from other types of infantile erythroderma, including Omenn syndrome. Treatment includes fluid and nutrition replacement, antibiotics to control infection, and fresh-frozen plasma therapy. The prognosis is unclear; it depends on treatment. LD is a life-threatening condition that requires prompt identification and hospitalization. Affected infants who receive vigorous treatment not only have the prospect of surviving, but also generally lead a normal life after infancy.
Subject(s)
Complement C5/deficiency , Dermatitis, Exfoliative , Hereditary Complement Deficiency Diseases , Anti-Bacterial Agents/therapeutic use , Dermatitis, Exfoliative/diagnosis , Dermatitis, Exfoliative/etiology , Dermatitis, Exfoliative/therapy , Hereditary Complement Deficiency Diseases/diagnosis , Hereditary Complement Deficiency Diseases/etiology , Hereditary Complement Deficiency Diseases/therapy , Humans , InfantABSTRACT
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by deposition of amorphous hyaline material in different parts of the body, especially the skin and mucous membranes. Disfiguring lesions predominantly affect facial appearance. There is no curative therapy and treatment options are limited to symptomatic approaches. Facial disfigurement in this disease may have an huge negative effect on the patients' psychology and quality of life. With this regard, the patients may benefit very much from symptomatic treatments. Four patients with LP were treated with Er:YAG laser to ablate disfiguring lesions on the face. Patients were followed up for 14 months to 2 years. We obtained favorable clinical and aesthetic results in all cases with Er:YAG laser treatment and did not observe any recurrences during the follow-up. Depending on our observations Er-YAG laser can be accepted as an effective tool for dermal accumulations and scars of LP with precise ablation capability and favorable esthetic results.
Subject(s)
Lasers, Solid-State/therapeutic use , Lipoid Proteinosis of Urbach and Wiethe/surgery , Quality of Life , Adolescent , Adult , Cicatrix/etiology , Cicatrix/prevention & control , Face/pathology , Female , Follow-Up Studies , Humans , Lipoid Proteinosis of Urbach and Wiethe/pathology , Male , Treatment Outcome , Young AdultABSTRACT
Darier-White disease is one of the most common genodermatoses. The most typical clinical symptoms such as diffuse hyperkeratotic papulae usually appear during puberty or early adulthood in seborrhoeic area. It is connected with substantial deterioration of the quality of life due to aesthetic defect. Although there exist many therapeutic options, the disease still causes considerable therapeutic difficulties. Treatment with fractional CO2 laser seems to be a promising therapeutic method. In this paper, we present two cases of patients with Darier's disease who have been treated with a fractional CO2 laser with very good clinical outcome.