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the term  circumscribed storiform collagenoma ( csc ) was first introduced by maize et al .   to describe an uncommon benign lesion of the skin , similar to sclerotic fibroma associated with cowden syndrome . rubinstein - taybi syndrome ( rsts ) is a very rare condition that derives from mutations in the creb - binding protein ( crebbp ) on chromosome 16p13.3 and the e1a - binding protein p300 ( ep300 ) on chromosome 22 .
it is characterized by a broad spectrum of clinical features such as mental retardation , short stature , craniofacial and limb abnormalities , as well as skin disorders . along with these abnormalities , ophthalmic lesions , congenital heart diseases , and renal abnormalities
most boys have undescended testes , and a high susceptibility to the formation of keloids on the skin has been referred to . in this report , we describe the extremely rare case of csc associated with rsts in a young adolescent .
a 16-year - old boy with rsts was evaluated in our department for a mass at the site of an old scar after surgery for left undescended testes performed at the age of 2 years .
his past medical history disclosed surgery for transposition of the great vessels that was performed at the age of 2 months .
physical examination revealed a mentally retarded adolescent with a height of 135 cm , microcephaly and beaked nose , low hanging septum , atypical smile , almost closed eyes , high arched palate , hirsutism , and enlarged first finger and hallux .
1 ) . a huge multilobulated mass of pink color with crypts and fissures was noticed in the left groin ( fig .
there was no referred pain on palpation , and the mass was totally excised under general anesthesia .
the surgical sample measured 8  4  3 cm and exhibited epidermal hyperplasia and hyperkeratosis with focal papillary configuration .
histopathology showed that the specimen was composed of bundles of collagen arranged in a storiform pattern mixed with fibroblasts ( fig .
although this type of lesion could match the description of a keloid , the intense plexoid configuration of the collagen bundles classified the lesion into the category of csc .
rsts was first described in 1963   and represents an extremely rare multiple congenital anomaly with an incidence ranging from 100,000 to 125,000 live births . the syndrome may be observed in either sex .
although it develops sporadically , an autosomal dominant inheritance has been noted in some cases . up to the 90s ,
proposed four clinical principles that support the diagnosis of rsts : the beaked nose with low hanging septum , grimacing smile , broad thumb and large hallux , and mental retardation .
the patient presented herein was also born with transposition of the great vessels and undescended testes .
however , molecular studies in 1991 suggested that the lesion is a genetic anomaly derived from de novo genetic mutations in the chromosomal region 16p13.3 .
further studies identified crebbp gene mutation in 50% of patients with rsts   and ep300 gene mutation in 8% .
currently , up to 70% of patients clinically recognized as rsts cases may have their diagnosis confirmed by genetic analysis .
the diagnosis of rsts in the present case was based on clinical characteristics since the patient fulfilled the clinical criteria of the syndrome .
cutaneous manifestations of rsts are numerous : the most common include keloid development ( either spontaneous or posttraumatic ) and hirsutism .
other less common anomalies are capillary hemangiomas , caf - au - lait spots , seborrheic dermatitis , pilomatri comas , abnormal dermatoglyphics , and follicular hyperkeratosis .
to our knowledge , this is the first reported case of csc associated with rsts .
csc is an unusual benign tumor which occurs more often in young and middle - aged adults .
it can present either occasionally   or in association with other diseases and syndromes [ 2 , 9 , 10 ] .
although cowden syndrome is the most common condition to be associated with multiple csc , the lesion has also been identified in patients with lhermitte - duclos disease   and bannayan - ruvalcaba - riley syndrome .
lhermitte - duclos disease , otherwise known as dysplastic cerebellar gangliocytoma , is a rare hamartomatous disease of the cerebellum that slowly enlarges within the cerebellar cortex .
bannayan - ruvalcaba - riley syndrome is characterized by macrocephaly , cutaneous lipomas , developmental delay and intestinal polyps .
all these syndromes share certain common features : they are autosomal dominant disorders characterized by mutations in the pten tumor suppressor gene found on chromosome 10q .
clinically , an isolated csc is a small lump or nodule of whitish , pink , or skin color that is usually located on the face and limbs , but it can also develop on the chest , scalp , nail , and oral mucosa . in a series of 11 patients , rapini and golitz   noted a small female predilection ( 8/11 ) .
major findings include the presence of a distinctly confined tumor with atrophy of the epidermis , and sclerotic collagen bundles separated by clefts that may contain mucin or may be empty [ 1 , 9 ] .
a considerable number of skin tumors must be differentiated from csc such as giant cell collagenoma , fibrolipoma , sclerotic lipoma , pleomorphic fibroma , dermatofibroma , and intradermal spitz nevus .
surgical excision in free margins is the treatment of choice . however , some tumors may reoccur .
the association of csc and rsts could be a new entity . although the presence of csc in our case may be accidental
, one could speculate that mutations in the cpb gene may be responsible for csc .
the cpb gene activates various transcription factors and is involved in several conditions such as inflammation in asthma , hematopoiesis , angiogenesis , myelodysplastic syndromes , and acute myeloid leukemia .
physicians must be aware when evaluating patients with rsts to ascertain the prevalence of this association , while further studies are needed to support any genetic association .
rubinstein - taybi syndrome is a rare congenital neurodevelopmental disorder characterized by dysmorphic features , skeletal abnormalities , growth deficiency , and mental retardation . 
 circumscribed storiform collagenoma is a distinct benign fibromatous tumor that presents either as solitary tumor or in association with other syndromes . in this report 
 , we describe a 16-year - old male with rubinstein - taybi syndrome associated with circumscribed storiform collagenoma . to our knowledge , this association has not been previously described in the literature .