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Other and Rare Birthmarks

Tufted Angioma
A tufted angioma is a rare, benign growth of blood vessels that develops during infancy and childhood with most appearing before the age of five. Tufted angiomas are slow growing red to purple patches and firm flat portions with solid, round raised lesions on top.  Tufted angiomas usually develop on the neck, shoulder, trunk, or groin and can be associated with pain, tenderness, increased perspiration, and increased hair growth on lesion. Some cases of tufted angiomas are associated with Kasabach-Merritt syndrome (put link: see Kasabach-Merritt syndrome). Treatment options for tufted angiomas include surgical removal, pulsed dye laser therapy and use of topical glucocorticoids.

Kaposiform hemangioendothelioma
Kaposiform hemangioendothelioma is a rare, rapidly growing mass of blood vessels that may be present at birth or develop during infancy. A Kaposiform hemangioendothelioma appears as a poorly defined mass of blood vessels, blue to purple in color. Kaposiform hemangioendotheliomas commonly develop on the trunk of the body and are highly associated with Kasabach-Merritt syndrome (put link: see Kasabach-Merritt syndrome). Patients with kaposiform hemangioendothelioma should be monitored for issues or disorders in clotting as it often affects the amount of platelets in the body. Treatment options for kaposiform hemangioendotheliomas include surgical removal and transcatheter embolization.

Kasabach-Merrit Phenomenon
Kasabach-Merritt syndrome (KMS) is also known as “Hemangiomas with thrombocytopenia.”  It is a combination of hemangioma, thrombocytopenia, and coagulopathy.  It is a rare disease of infancy in which the thrombocytopenia (decreased platelet count) results from the hemangioma trapping and activating platelets, which in turn promotes further growth of the vascular tumor.  Bleeding problems can ensue and may be life-threatening.  Laboratory testing including blood counts and clotting studies are important, as well as imaging studies and biopsy of the tumor when necessary.  Management of these patients is complex with several subspecialists involved. Generally, treatment of the underlying vascular tumor results in resolution of KMS.  Surgical resection may provide a cure if it poses no threat to the patient.  Other treatments include embolization and compression bandages to decrease the tumor’s blood supply, corticosteroids, alpha-interferon, and chemotherapy.  Mortality rate is about 30%.  Patients need close follow-up with Dermatologists for residual cosmetic lesions.
Hall G (2001). "Kasabach–Merritt syndrome: pathogenesis and management". Br J Haematol 112 (4): 851–62. doi:10.1046/j.1365-2141.2001.02453.x. PMID 11298580. 
Ataxia telangectasia (A-T) is a rare, degenerative disorder affecting the part of the brain that controls motor skills, balance, and speech.  A-T also weakens the immune system in about 70% of the cases, leading to respiratory disorders and an increased risk of cancer.  Patients usually have telangectasias (small dilated blood vessels) on the eyes and skin.  The hallmark of the disease is poor coordination (ataxia) and telangectasias.  Symptoms may first appear in the toddler state with lack of balance, slurred speech, and increased infections.  Patients may have an IgA, IgG, and IgE deficiency leading to increased risk of infections, hyper-sensitivity to ionizing radiation, and raised Alpha-fetoprotein levels. 
Prognosis is poor for individuals with A-T and symptoms progressively worsen with time.  Diagnosis is made clinically and management is symptomatic and supportive.  Physical and Occupational Therapy may help improve motor skills and maintain flexibility, Gamma-globulin injections and vitamins may support the weakened immune system, and antibiotics may be used to treat infections.

Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare condition with hamartomatous polyps of the small and large intestines.  It is associated with macrocephaly (larger head size), lipomas (benign fatty tumors), blood vessel changes (hemangiomas), and thyroid problems.  Some children may be hypotonic (decreased muscle tone), have learning difficulties, and developmental delays.  Also, the hemangiomas (raised red birthmarks) associated with this condition may be present on internal organs and the skin.  Not all patients diagnosed with BRRS have the same features. Only 50% have developmental and learning delays and only 45% develop intestinal polyps.  In addition, patients may display eye abnormalities such as strabismus (crossed eye), widely spaced eyes, and exotropia (deviation of one eye away from the other).  Also, skin abnormalities may include areas of “marbled” pigmentation (cutis marmorata) and freckle-like spots on the genital region of both male and female patients.  Close follow-up with specialists specific to associated symptoms is a vital part of managing this condition.
Hannigan, Steve; National Information Centre for Metabolic Diseases (2007). Inherited Metabolic Diseases: A Guide to 100 Conditions. Radcliffe Publishing. p. 101. ISBN 1846190991.

Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorders present at birth.  Five cardinal features of BWS include the following:  macroglossia (large tongue), macrosomia (birth weight and height >90th percentile), midline abdominal wall defects (diastasis recti, umbilical hernia), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar present at birth).  In addition, children often have a Nevus Flammeus (Port-Wine Stain Birthmark) on their forehead or back of their neck and Hemihypertrophy (abnormal asymmetry between the left and right sides of the body occurring when one part of the body grows faster than normal).  Most children with BWS do not exhibit all five features; thus, diagnosis may be based on only two out of the five common features associated with BWS.  Although about 80% of children with BWS do not develop cancer, it is important to mention that they are about 600 times more likely to develop certain childhood cancers, particularly Wilms tumors and hepatoblastoma, but no increased risk of adult forms of cancer.  If diagnosed early, patients are usually cured; thus, emphasis on early detection is the key, recommending frequent abdominal ultrasounds and frequent blood tests to measure Alpha-fetoprotein (AFP).  Prognosis is very good for patients with BWS and working closely with a team of doctors is of the utmost importance.
Elliott M, Bayly R, Cole T, Temple IK, Maher ER (August 1994). "Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases". Clinical genetics 46 (2): 168–74. PMID 7820926.

Blue Rubber Bleb Nevus Syndrome (BRBNS)
This syndrome is a rare disorder characterized by multiple venous malformations most commonly affecting the skin and gastrointestinal tract.  BRBNS is important due to its potential for serious or fatal bleeding.  Cutaneous manifestations include multiple, protuberant, dark blue, compressible blebs that range in size from a few millimeters to several centimeters in diameter.  Three types of lesions have been described:  blue, rubbery. Blood-filled sacs with a smooth or wrinkled surface that are easily compressible and promptly refill when pressure is released; large, disfiguring, cavernous lesions that may compress vital structures; and blue, irregular macules.  Lesions may be painful and increased sweating on the skin overlying the lesion may be noted.  GI symptoms may include rectal bleeding or dark stools, which may lead to anemia, fatigue, and in some severe cases, fatal hemorrhage due to spontaneous rupture.  Skeletal lesions may lead to fractures and bone deformities, causing pain and difficulty walking.  Although rare, blue rubber bleb nevi have been reported in most organs of the body.  Treatment is patient-centered and close follow-up with specialists depending on the organ system involved is key to optimizing care.
Ertem D, Acar Y, Kotiloglu E, Yucelten D, Pehlivanoglu E (February 2001). "Blue rubber bleb nevus syndrome". Pediatrics 107 (2): 41820. doi:10.1542/peds.107.2.418. PMID 11158481.

Cobb syndrome
Cobb syndrome is a rare, non-inherited disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVM).  The skin lesions typically are present as Port-Wine Stains (light pink to dark purple birthmarks), but reports exist of angiokeratomas, angiolipomas, and lymphangioma circumscriptum.  The congenital cutaneous vascular lesions are usually distributed in a dermatomal pattern, from midline back to abdomen.  The underlying intraspinal lesions may be angiomas and AVMs at the same level of the spinal cord corresponding to the involved dermatomes of the skin.  Patients typically present with a sudden onset of back or lower extremity radicular pain associated with numbness or, in some cases, paralysis.  Early intervention with spinal decompression is key to minimizing permanent neurological damage; thus, early correct diagnosis is of extreme importance.  A possible complication if treatment is delayed is Foix-Alajouanine disease which is a necrotic myelophathy due to thrombosis in the spinal angioma.  Patients displaying signs and symptoms of this disorder may undergo several imaging studies such as MRI, Radiography, Angiography, and CT scans, as well as a thorough work-up by specialists in the fields of Neurology, Neurosurgery, and Interventional Radiology to ensure the best prognosis.
 Clinton TS, Cooke LM, Graham BS. Cobb syndrome associated with a verrucous (angiokeratomalike) vascular malformation. Cutis. Apr 2003;71(4):283-7.

A hemangiopericytoma is a very rare soft tissue mass due to overgrowth of capillaries that is almost always benign. Usually located on the extremities, hemangiopericytomas are present at birth or within the first few years of life. Surgical removal seems to be the only treatment option for hemangiopericytoma currently available.

Glomus tumor
A glomus tumor or glomangioma is a rare, benign growth of blood vessels which can develop in both adults and children. Glomus tumors can develop as a solitary glomangioma (one growth of blood vessels) or as multiple glomulovenous formations (multiple groupings of blood vessels). Glomus tumors are blue to purple in color and small in size, usually developing on the limbs of the body and the extremities (fingers and toes). Treatment options for glomus tumors include surgical removal, argon and carbon dioxide as well as pulsed dye laser therapy and sclerotherapy.

Maffucci syndrome
Maffucci syndrome is a rare genetic disorder of unknown cause characterized by benign enlargements of cartilage (enchondromas), bone deformities, and dark, irregularly shaped hemangiomas (both deep and superficial).  The disease manifests early on, sometimes at birth (25%), but usually around the age of 4 or 5 years.  A child with Maffucci syndrome may be brought in to the doctor because the parents have noticed soft, blue-colored growths on the distal aspects of the extremities.  Patients are usually short in stature and may have unequal arm and leg lengths due to the bone abnormalities.  The Hemangiomas have been reported in various locations on the body and even in the eyes, pharynx, tongue, trachea, and intestines.  The Enchondromas are usually found in the hands (89%), but can be found anywhere.  The tumors are nodular and can lead to fractures, difficulty walking, and disfigurement.  Radiologic studies, such as CT and/or MRI’s can help in monitoring any physical and debilitating changes, such as chondrosarcomas, the most common neoplasm in this syndrome.  Close follow-up with specialists such Radiologists, Orthopedic surgeons, and Dermatologist is key to monitoring every aspect of this syndrome.
Maffucci syndrome at Dorland's Medical Dictionary

Proteus Syndrome
Proteus syndrome is a congenital disorder that causes an overgrowth of tissue.  The syndrome may affect the skin, bones, fatty tissues, and blood and lymphatic vessels.  It is a progressive condition which means children are usually born without obvious physical signs of the syndrome.  As patients age, tumors begin to form and the skin and bones begin to grow in an asymmetric pattern.  The severity of these growths range from mild to severe and can affect various locations of the body, but typically affect the skull, one or more limbs and the soles of the feet.  Due to the disfiguring consequences and excess weight of enlarged limbs, symptoms of arthritis, muscle pain, and difficulty walking may be present.  Because blood vessels are affected, premature death may result due to deep vein thrombosis and pulmonary embolism.  Though the disorder itself does not directly cause learning disabilities, the tumors may cause secondary damage to the nervous system leading to cognitive disability.  Research continues to find the cause and cure for Proteus Syndrome. 
 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
Angiokeratomas are small dark red to purple raised spots. They may also have a rough scaly surface. They are composed of surface blood vessels (dilated capillaries). Often unnoticed, they may become crusty and bleed if accidentally scratched or damaged, or a harmless clot may form in the lesion (thrombosis), changing the color to dark purple or black overnight. Angiokeratomas are benign vascular lesions that histopathologically consist of dilated sub epidermal vessels and, in most cases, are associated with an epidermal reaction that includes  hyperkeratosis. They are seen clinically as solitary or multiple, red to black papules or plaques with a mamillated surface. There are several types of angiokeratomas: sporadic angiokeratoma, angiokeratoma of Fordyce, angiokeratoma circumscriptum, Fabry’s syndrome (angiokeratoma corporis diffusum).  Sone are amenable to treatment with pulsed dye laser surgery.

Cutis Marmorta Telangiectatica congentia (CMTC)
 Cutis marmorata telangiectatica congenita (CMTC) is an uncommonly reported, sporadic, congenital cutaneous disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Ulceration of the involved skin and cutaneous atrophy is described in a number of cases. In addition, CMTC is often reported in association with a variety of other congenital anomalies, including but not limited to undergrowth or overgrowth of an involved extremity. Congenital disorder which is present at birth or shortly after. CMTC principally affects the skin. CMTC tends to occur more frequently on the lower limbs, although the upper extremities, trunk, and face may also be involved. When located on the trunk, CMTC tends to have a midline distribution. The primary lesion is characterized by pinkish blue, reticular, and patchy skin changes.  Lesions may be localized or generalized. Skin atrophy and ulcerations, capillary malformations (i.e., nevus flammeus), capillary and cavernous hemangioma, atrophy or hypertrophy of the affected extremity, macrocephaly (macrocephaly cutis marmorata telangiectatica congenita syndrome), and glaucoma are frequently associated with CMTC. Other conditions associated with CMTC may include the following: Body asymmetry (hypoplasia and hypertrophy of the affected limbs), Vascular anomalies (capillary and cavernous hemangiomas, nevus flammeus, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, Adams Oliver syndrome),Glaucoma and retinal detachment , Cutaneous atrophy, Neurologic anomalies. The port wine stain (PWS) component of CMTC as well as any residual net-like vascular patches can be treated with pulsed dye laser.

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