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Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I.

Ovcharenko Y, Ramot Y - Int J Trichology (2013)

Bottom Line: We present a 17-year-old female of Ukrainian origin who presented to the hair clinic with the complaint of hair loss.Further examination revealed the presence of craniofacial features characteristic for TRPS type I.This case underlines the importance of the hair phenotype to the diagnosis of this syndrome and emphasizes the fact that when encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatovenerology, Kharkiv Medical Academy of Postgraduate Education, Kharkiv, Ukraine, Israel.

ABSTRACT
Trichorhinophalangeal syndrome (TRPS) type I is a rare autosomal dominant disorder, caused by mutations in the TRPS1 gene. It is characterized by slowly growing hair, craniofacial manifestations and orthopedic abnormalities. We present a 17-year-old female of Ukrainian origin who presented to the hair clinic with the complaint of hair loss. Further examination revealed the presence of craniofacial features characteristic for TRPS type I. Sequence analysis of the TRPS1 gene revealed a novel c. 2396_2397 insG frameshift mutation in exon 5, leading to a premature stop at codon 800. This case underlines the importance of the hair phenotype to the diagnosis of this syndrome and emphasizes the fact that when encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind.

No MeSH data available.


Related in: MedlinePlus

(a-e) Clinical manifestations of the patient, demonstrating hair loss, finger and toe malformation and facial deformities (f) Sequence analysis of TRPS1 showing the heterozygous mutation 2396_2397 insG
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Figure 1: (a-e) Clinical manifestations of the patient, demonstrating hair loss, finger and toe malformation and facial deformities (f) Sequence analysis of TRPS1 showing the heterozygous mutation 2396_2397 insG

Mentions: The present case report is about a 17-year-old female patient, born to a non-consanguineous family of a Ukrainian origin, who presented with short and sparse scalp hair, most pronounced in the temporal area [Figure 1a] and in a unique triangular shape in the mid occipital scalp [Figure 1b]. Additional findings included beaked nose with a long philtrum and an allergic crease [Figure 1c], widened proximal interphalangeal joints [Figure 1d], short toes [Figure 1e] and onycholysis of finger- and toenails. Sequence analysis of the TRPS1 gene revealed a novel c. 2396_2397 insG frameshift mutation in exon 5, leading to a premature stop at codon 800 [Figure 1f].


Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I.

Ovcharenko Y, Ramot Y - Int J Trichology (2013)

(a-e) Clinical manifestations of the patient, demonstrating hair loss, finger and toe malformation and facial deformities (f) Sequence analysis of TRPS1 showing the heterozygous mutation 2396_2397 insG
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3927178&req=5

Figure 1: (a-e) Clinical manifestations of the patient, demonstrating hair loss, finger and toe malformation and facial deformities (f) Sequence analysis of TRPS1 showing the heterozygous mutation 2396_2397 insG
Mentions: The present case report is about a 17-year-old female patient, born to a non-consanguineous family of a Ukrainian origin, who presented with short and sparse scalp hair, most pronounced in the temporal area [Figure 1a] and in a unique triangular shape in the mid occipital scalp [Figure 1b]. Additional findings included beaked nose with a long philtrum and an allergic crease [Figure 1c], widened proximal interphalangeal joints [Figure 1d], short toes [Figure 1e] and onycholysis of finger- and toenails. Sequence analysis of the TRPS1 gene revealed a novel c. 2396_2397 insG frameshift mutation in exon 5, leading to a premature stop at codon 800 [Figure 1f].

Bottom Line: We present a 17-year-old female of Ukrainian origin who presented to the hair clinic with the complaint of hair loss.Further examination revealed the presence of craniofacial features characteristic for TRPS type I.This case underlines the importance of the hair phenotype to the diagnosis of this syndrome and emphasizes the fact that when encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatovenerology, Kharkiv Medical Academy of Postgraduate Education, Kharkiv, Ukraine, Israel.

ABSTRACT
Trichorhinophalangeal syndrome (TRPS) type I is a rare autosomal dominant disorder, caused by mutations in the TRPS1 gene. It is characterized by slowly growing hair, craniofacial manifestations and orthopedic abnormalities. We present a 17-year-old female of Ukrainian origin who presented to the hair clinic with the complaint of hair loss. Further examination revealed the presence of craniofacial features characteristic for TRPS type I. Sequence analysis of the TRPS1 gene revealed a novel c. 2396_2397 insG frameshift mutation in exon 5, leading to a premature stop at codon 800. This case underlines the importance of the hair phenotype to the diagnosis of this syndrome and emphasizes the fact that when encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind.

No MeSH data available.


Related in: MedlinePlus