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Rothmund-thomson syndrome: a 13-year follow-up.

Guerrero-González GA, Martínez-Cabriales SA, Hernández-Juárez AA, de Jesús Lugo-Trampe J, Espinoza-González NA, Gómez-Flores M, Ocampo-Candiani J - Case Rep Dermatol (2014)

Bottom Line: Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density.RTS is a rare disease, and in this patient we observed the evolution of her skin lesions and other clinical features, which were important for the classification of type II RTS.The next years will provide even more information on this rare disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Hospital Universitario 'Dr. José Eleuterio González', Universidad Autónoma de Nuevo León, Monterrey, Mexico.

ABSTRACT
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones and eyes and, in type II RTS, presenting an increased risk for malignancy. With about 300 cases reported so far, we present a 13-year follow-up including clinical images, X-rays and genetic analysis. A 13-month-old female started with a facial rash with blisters on her cheeks and limbs at the age of 3 months along with congenital hypoplastic thumbs, frontal bossing and fine hair, eyebrows and eyelashes. The patient was lost to follow-up and returned 12 years later with palmoplantar hyperkeratotic lesions, short stature, disseminated poikiloderma and sparse scalp hair, with absence of eyelashes and eyebrows. Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density. Gene sequencing for the RECQL4 helicase gene revealed a mutation on each allele. RTS is a rare disease, and in this patient we observed the evolution of her skin lesions and other clinical features, which were important for the classification of type II RTS. The next years will provide even more information on this rare disease.

No MeSH data available.


Related in: MedlinePlus

RTS. Thirteen-month-old patient showing poikiloderma on the face and extremities.
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Figure 1: RTS. Thirteen-month-old patient showing poikiloderma on the face and extremities.

Mentions: We present a 13-month-old female with facial rash and blisters on the cheeks and limbs starting at the age of 3 months along with congenital hypoplastic thumbs, frontal bossing and fine hair, with thinning of brows and eyelashes. Skin biopsy showed epidermal atrophy with dermoepidermoid edema, and RTS was diagnosed (fig. 1). The patient returned 13 years later with short stature, sparse scalp hair, absence of eyelashes and brows, disseminated poikiloderma, café au lait spots on the trunk and palmoplantar hyperkeratotic lesions. Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density (fig. 2). No other alterations were found. Karyotype analysis was normal (46,XX). Gene sequencing revealed mutations in both alleles of the RECQL4 helicase gene. One of them is a nonsense recurrent mutation located in exon 14, consisting of a change of a cytosine for a thymine (c.2269C>T) producing a premature stop codon and therefore a truncated protein (p.Q757X). On the other allele, the mutation observed has been described in few reports in a compound heterozygous state with c.2269C>T. This mutation is a deletion of two nucleotides found in exon 5 (c.1048_1049delAG) which produces a frameshift (p.Arg350Glyfs*21).


Rothmund-thomson syndrome: a 13-year follow-up.

Guerrero-González GA, Martínez-Cabriales SA, Hernández-Juárez AA, de Jesús Lugo-Trampe J, Espinoza-González NA, Gómez-Flores M, Ocampo-Candiani J - Case Rep Dermatol (2014)

RTS. Thirteen-month-old patient showing poikiloderma on the face and extremities.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4127543&req=5

Figure 1: RTS. Thirteen-month-old patient showing poikiloderma on the face and extremities.
Mentions: We present a 13-month-old female with facial rash and blisters on the cheeks and limbs starting at the age of 3 months along with congenital hypoplastic thumbs, frontal bossing and fine hair, with thinning of brows and eyelashes. Skin biopsy showed epidermal atrophy with dermoepidermoid edema, and RTS was diagnosed (fig. 1). The patient returned 13 years later with short stature, sparse scalp hair, absence of eyelashes and brows, disseminated poikiloderma, café au lait spots on the trunk and palmoplantar hyperkeratotic lesions. Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density (fig. 2). No other alterations were found. Karyotype analysis was normal (46,XX). Gene sequencing revealed mutations in both alleles of the RECQL4 helicase gene. One of them is a nonsense recurrent mutation located in exon 14, consisting of a change of a cytosine for a thymine (c.2269C>T) producing a premature stop codon and therefore a truncated protein (p.Q757X). On the other allele, the mutation observed has been described in few reports in a compound heterozygous state with c.2269C>T. This mutation is a deletion of two nucleotides found in exon 5 (c.1048_1049delAG) which produces a frameshift (p.Arg350Glyfs*21).

Bottom Line: Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density.RTS is a rare disease, and in this patient we observed the evolution of her skin lesions and other clinical features, which were important for the classification of type II RTS.The next years will provide even more information on this rare disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Hospital Universitario 'Dr. José Eleuterio González', Universidad Autónoma de Nuevo León, Monterrey, Mexico.

ABSTRACT
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones and eyes and, in type II RTS, presenting an increased risk for malignancy. With about 300 cases reported so far, we present a 13-year follow-up including clinical images, X-rays and genetic analysis. A 13-month-old female started with a facial rash with blisters on her cheeks and limbs at the age of 3 months along with congenital hypoplastic thumbs, frontal bossing and fine hair, eyebrows and eyelashes. The patient was lost to follow-up and returned 12 years later with palmoplantar hyperkeratotic lesions, short stature, disseminated poikiloderma and sparse scalp hair, with absence of eyelashes and eyebrows. Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density. Gene sequencing for the RECQL4 helicase gene revealed a mutation on each allele. RTS is a rare disease, and in this patient we observed the evolution of her skin lesions and other clinical features, which were important for the classification of type II RTS. The next years will provide even more information on this rare disease.

No MeSH data available.


Related in: MedlinePlus