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Severe Darier's disease patient with mutation of ATP2A2.

Li CR, Zhang Y, Jia WX, Xiao XM, Gu NY, Sheng N, Mao QX, Yao X - Postepy Dermatol Alergol (2014)

View Article: PubMed Central - PubMed

Affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences (CAMS) & Peking Union Medical College (PUMC), Nanjing, Jiangsu, China. Head of Department: Prof. Baoxi Wang.

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Darier's disease (DD, OMIM 124200) is an autosomal dominant genodermatosis characterized by warty papules and plaques in seborrheic areas, such as the central trunk, flexures, scalp and forehead... Recently, more and more articles have maintained that DD and AKV are variable expressions of the same disease... Genetic studies found that both diseases have the same defective gene, the ATP2A2 gene, encoding the sarco(endo)plasmic reticulum Ca-ATPase2 pump (SERCA2)... Genomic DNA was amplified by polymerase chain reaction (PCR) using primers spanning the entire coding sequence and the intron-exon boundaries of the ATP2A2 gene as previously described... The patient was found to carry a heterozygous missense c.1484C > T mutation in exon 12 of the ATP2A2 gene... The mutation leads to the substitution of serine (TCG) at position 495 to leucine (TTG), which was not found in the patient's healthy parents, neither in 100 unrelated control individuals (Figure 2B) indicating that it does not represent common polymorphisms (Figure 2A)... Darier's disease, also known as Darier-White disease and keratosis follicularis, is a progressive, autosomal dominant genodermatosis with peculiar keratinization of the epidermis mostly over seborrheic areas... In reported cases, the patient with F487S showed severe DD, and patients with M494L or M494I showed moderate to severe DD... This may support the theory that N domain is important for the activity of the enzyme and may be related with the phenotype of DD... In summary, we have demonstrated a sporadic severe DD patient with AKV-like lesion on the dorsa of the hands... Based on previously published reports, we confirm that most mutations in that gene are private and the ATP2A2 gene mutation could occur in almost every motif without hotspots.

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Related in: MedlinePlus

The proband's skin eruptions and histopathology. A – The skin-colored, yellow or yellow-brown, harsh, firm, greasy papules widely distributed on the proband's body. B – Verruca-like lesions on the patient's dorsum of the hands. C – Histopathology of the patient's right forearm. Staining: H + E, magnification 400×
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Figure 0001: The proband's skin eruptions and histopathology. A – The skin-colored, yellow or yellow-brown, harsh, firm, greasy papules widely distributed on the proband's body. B – Verruca-like lesions on the patient's dorsum of the hands. C – Histopathology of the patient's right forearm. Staining: H + E, magnification 400×

Mentions: A 37-year-old Chinese man presented with a 26 years’ history of the skin lesion. He was born at full term and the neonatal period was uneventful. He developed discrete, keratotic papules on the face at the age of 11. The keratotic papules gradually increased and involved the trunk and extremities. The lesion became prominent in summer, while fainter in winter. His parents were asymptomatic. Physical examination demonstrated that the patient had normal intellectual ability, without any neuropsychiatric disorder or behavior problems. Skin-colored, yellow or yellow-brown, harsh, firm, greasy papules were widely distributed on the body (Figure 1A). Some scattered lesions expanded and merged into warty papules and plaques. It was interesting that verruca-like lesions were noted on patient's dorsum aspects of the hands, which were similar with AKV (Figure 1B). Punctuate keratoses were seen on the palms and soles. The nails were normal. And no abnormal manifestations were detected in the oral cavity.


Severe Darier's disease patient with mutation of ATP2A2.

Li CR, Zhang Y, Jia WX, Xiao XM, Gu NY, Sheng N, Mao QX, Yao X - Postepy Dermatol Alergol (2014)

The proband's skin eruptions and histopathology. A – The skin-colored, yellow or yellow-brown, harsh, firm, greasy papules widely distributed on the proband's body. B – Verruca-like lesions on the patient's dorsum of the hands. C – Histopathology of the patient's right forearm. Staining: H + E, magnification 400×
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4221357&req=5

Figure 0001: The proband's skin eruptions and histopathology. A – The skin-colored, yellow or yellow-brown, harsh, firm, greasy papules widely distributed on the proband's body. B – Verruca-like lesions on the patient's dorsum of the hands. C – Histopathology of the patient's right forearm. Staining: H + E, magnification 400×
Mentions: A 37-year-old Chinese man presented with a 26 years’ history of the skin lesion. He was born at full term and the neonatal period was uneventful. He developed discrete, keratotic papules on the face at the age of 11. The keratotic papules gradually increased and involved the trunk and extremities. The lesion became prominent in summer, while fainter in winter. His parents were asymptomatic. Physical examination demonstrated that the patient had normal intellectual ability, without any neuropsychiatric disorder or behavior problems. Skin-colored, yellow or yellow-brown, harsh, firm, greasy papules were widely distributed on the body (Figure 1A). Some scattered lesions expanded and merged into warty papules and plaques. It was interesting that verruca-like lesions were noted on patient's dorsum aspects of the hands, which were similar with AKV (Figure 1B). Punctuate keratoses were seen on the palms and soles. The nails were normal. And no abnormal manifestations were detected in the oral cavity.

View Article: PubMed Central - PubMed

Affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences (CAMS) & Peking Union Medical College (PUMC), Nanjing, Jiangsu, China. Head of Department: Prof. Baoxi Wang.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Darier's disease (DD, OMIM 124200) is an autosomal dominant genodermatosis characterized by warty papules and plaques in seborrheic areas, such as the central trunk, flexures, scalp and forehead... Recently, more and more articles have maintained that DD and AKV are variable expressions of the same disease... Genetic studies found that both diseases have the same defective gene, the ATP2A2 gene, encoding the sarco(endo)plasmic reticulum Ca-ATPase2 pump (SERCA2)... Genomic DNA was amplified by polymerase chain reaction (PCR) using primers spanning the entire coding sequence and the intron-exon boundaries of the ATP2A2 gene as previously described... The patient was found to carry a heterozygous missense c.1484C > T mutation in exon 12 of the ATP2A2 gene... The mutation leads to the substitution of serine (TCG) at position 495 to leucine (TTG), which was not found in the patient's healthy parents, neither in 100 unrelated control individuals (Figure 2B) indicating that it does not represent common polymorphisms (Figure 2A)... Darier's disease, also known as Darier-White disease and keratosis follicularis, is a progressive, autosomal dominant genodermatosis with peculiar keratinization of the epidermis mostly over seborrheic areas... In reported cases, the patient with F487S showed severe DD, and patients with M494L or M494I showed moderate to severe DD... This may support the theory that N domain is important for the activity of the enzyme and may be related with the phenotype of DD... In summary, we have demonstrated a sporadic severe DD patient with AKV-like lesion on the dorsa of the hands... Based on previously published reports, we confirm that most mutations in that gene are private and the ATP2A2 gene mutation could occur in almost every motif without hotspots.

No MeSH data available.


Related in: MedlinePlus