A 37-year-old Filipino man presented with a 9-month history of sagging skin progressing cephalocaudally from the chin and neck to the axillae, side of the trunk, and pelvic area. This was followed by a 2-month history of increasing serum creatinine levels associated with periorbital and bipedal edema, generalized weakness, decreased appetite, vomiting, and headache. Subsequently, skin-colored, non-tender sac-like plaques appeared on the abdomen, inguinal, and intergluteal areas. Histopathology of the latter lesions showed increased spaces between collagen bundles in the dermis. Staining with Verhoeff-van Gieson revealed focal sparse elastic fibers in the papillary dermis compared to that of the reticular dermis consistent with anetoderma. Further work-up revealed normal ANA titer and low serum C3. Kidney biopsy showed IgG deposition in the tubular basement membrane and trace C3 deposition in the glomerular mesangium, giving a diagnosis of rapid progressive glomerulonephritis. On subsequent follow-up, the sac-like plaques became lax and presented as generalized wrinkling of the skin, raising the question whether cutis laxa and anetoderma are occurring in a spectrum instead as distinct entities. Based on the current review of literature, this is the first reported case of primary anetoderma co-occurring with cutis laxa in a patient with glomerulonephritis. Deposition of immunoglobulins along the elastic fibers could have activated the complement system, mediating the destruction of the elastic fibers, resulting to cutis laxa and anetoderma. This case also considers the possibility of anetoderma and type I acquired cutis laxa occurring either in a spectrum or as distinct diseases in a single patient. Further investigations may identify an ultrastructural pattern that can help differentiate the two entities.
Anetoderma ; Cutis Laxa ; Glomerulonephritis

Cutis laxa is a rarely discussed entity which manifests itself primarily as loose redundant skin and may be accompanied by internal anomalies. Localized cutis laxa is involved to the ear lobules, eyelids an lips in 34 years old male was described. Diagnosis of localized cutis laxa was established by clinical characteristic manifestations and histopathological studies.
Adult ; Cutis Laxa* ; Diagnosis ; Ear ; Eyelids ; Humans ; Lip ; Male ; Skin

Annular atrophic lichen planus(AALP) is an uncommon variant of lichen planus that results from elastolytic activity of inflammatory cells with formation of areas of localized acquired cutis laxa. The annular configuration of the lesions resulted from peripheral enlargement with simultaneous central clearing. Histologically, it shows the feature of lichen planus in the active border of the lesion and a pattern of resolved lichen planus in its center. Elastic fibers had been destroyed in the papillary dermis both in the border and in the center of the lesion, resulting in an atrophic appearance of the lesion. We report a case of annular atrophic lichen planus which has never been reported in Korea.
Cutis Laxa ; Dermis ; Elastic Tissue ; Korea ; Lichen Planus* ; Lichens*

We experienced a case of cutis laxa in a 17-year-old man. The skin showed diminished elasticity with loose folds, wrinkling, and sagging on the abdomen, lower back, and both inner thighs. There was no history of any inflammatory skit diseases prior to the appearance of the wrinkling. Family history revealed to be negative for the skin diseases showing wrinkling and laxity. The biopsy specimen from the skin of the abdomen showed shortened, fragmented elastic fibers in the dermis. The serum copper level was normal(92 ug/dl).
Abdomen ; Adolescent ; Biopsy ; Copper ; Cutis Laxa* ; Dermis ; Elastic Tissue ; Elasticity ; Humans ; Skin ; Skin Diseases ; Thigh

In 2005, Kreidstein first proposed the term "Cutis pleonasmus," a Greek term meaning "redundancy," which refers to the excessive skin that remains after massive weight loss. Cutis pleonasmus is clearly distinguishable from other diseases showing increased laxity of the skin, such as pseudoxanthoma elasticum, congenital and acquired generalized cutis laxa. Although individuals who are severely overweight are few and bariatric surgeries are less common in Korea than in the West, the number of these patients is increasing due to changes to Western life styles. We report a case for a 24-year-old man who presented with generalized lax and loose skin after massive weight loss. He was diagnosed with cutis pleonasmus based on the history of great weight loss, characteristic clinical features and normal histological findings. To the best of our knowledge, this is the first report of cutis pleonasmus in Korea.
Bariatric Surgery ; Cutis Laxa ; Humans ; Korea ; Life Style ; Overweight ; Pseudoxanthoma Elasticum ; Skin ; Weight Loss ; Young Adult

Pseudoxanthoma elasticum is a rare, heritable, systemic disease of connective tissue characterized by degeneration of elastic fiber and mainly affects the skin, eye and blood vessels. We report a case of pseudoxanthoma elasticum mimicking cutis laxa. She had a generalized laxity of the skin for about 30 years. There were similar skin lesions in her sister. No other systemic involvement was found. Histopathologic examination revealed clumping, fragmentation and calcification of elastic fibers in the dermis.
Blood Vessels ; Connective Tissue ; Cutis Laxa* ; Dermis ; Elastic Tissue ; Humans ; Pseudoxanthoma Elasticum* ; Siblings ; Skin

Congenital cutis laxa is a rare inherited disorder of connective tissue manifested by loose and hanging skin, resulting in a prematurely-aged appearance. Cutis laxa may be inherited in an autosomal dominant, autosomal recessive and X-linked recessive pattern or an acquired form. In this report we describe a patient with congenital cutis laxa and growth retardation. The skin showed loose folds, wrinkling, and sagging of the face, abdomen, and both thighs. His weight and height were below the 3rd percentile. He had no family history for this skin disease.
Abdomen ; Connective Tissue ; Cutis Laxa* ; Elastic Tissue ; Humans ; Skin ; Skin Diseases ; Thigh

Congenital cutis laxa is a rare inherited disorder of connective tissue manifested by loose and hanging skin, resulting in a prematurely-aged appearance. Cutis laxa may be inherited in an autosomal dominant, autosomal recessive and X-linked recessive pattern or an acquired form. In this report we describe a patient with congenital cutis laxa and growth retardation. The skin showed loose folds, wrinkling, and sagging of the face, abdomen, and both thighs. His weight and height were below the 3rd percentile. He had no family history for this skin disease.
Abdomen ; Connective Tissue ; Cutis Laxa* ; Elastic Tissue ; Humans ; Skin ; Skin Diseases ; Thigh

Elastosis perforans serpiginosa (EPS) is a rare reactive perforating dermatosis that is characterized by the transepidermal elimination of abnormal elastic fibers. Penicillamine, which is one of the clear triggers for EPS, is a heavy metal chelator that is primarily used for disorders such as cystinuria and Wilson's disease. It may cause alterations in the dermal elastic tissue such as pseudo-pseudoxanthoma elasticum, acquired cutis laxa, EPS and anetoderma. Herein we present a case of cutis laxa and EPS in a 34-year-old man who was previously on a long-term, high-dose of penicillamine for Wilson's disease. The combination of EPS and cutis laxa induced by penicillamine has rarely been reported and we report the first such case in Korea.
Adult ; Anetoderma ; Cutis Laxa ; Cystinuria ; Elastic Tissue ; Hepatolenticular Degeneration ; Humans ; Korea ; Penicillamine ; Skin Diseases

OBJECTIVE: To carry out genetic diagnosis for a pedigree affected with cutis laxa. METHODS: Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing. RESULTS: A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls. CONCLUSION The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.
Cutis Laxa ; genetics ; Elastin ; genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Pedigree