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Congenital cutaneous tumors such as hemangiomas and vascular malformations such as arteriovenous malformations are other less common cutaneous mimics. Capillary hemangiomas have a distinct growth pattern wherein they exhibit rapid growth during the first few months of life, followed by slow growth and eventual involution. Especially in the case of hemangiomas on less visible parts of the body such as the genitalia, ulcerative changes may lead a provider or caretaker to consider abusive injury to the area [Levin and Selbst, ]. Genetic dermatological conditions such as epidermolysis bullosa EB are less common cutaneous mimics.
The more clinically concerning EB encompasses a group of bullous connective tissue disorders at the level of the skin basement membrane. Though various forms of EB can have either autosomal recessive or autosomal dominant inheritance patterns, EB collectively has an incidence of 19 out of 1 million live births in the United States and presumably worldwide. Depending on the subtype of EB, clinical onset may be as early as birth and appear as late as early adulthood [Fine, ].
Ranging from mild to severe, all forms of EB are marked by skin fragility and formation of bullous lesions secondary to minimal or absent mechanical friction. Thorough patient medical history and family history is of particular importance when evaluating a child presenting with unexplained blistering lesions. In addition to comprehensive history and clinical evaluation, immunohistochemistry and skin biopsy are also modes of diagnosis, which separate these devastating lesions from acquired abusive burns [Fine, ].
Often lethal for males, it presents in various mosaic forms in females, and the neurocutaneous manifestations may be accompanied by varying degrees of other anomalies including dental, musculoskeletal, auditory, and pulmonary. The combination of cutaneous, neurologic, and ophthalmologic findings in an infant suspected of having suffered an abusive injury should raise suspicion for IP. The cutaneous findings are described in four stages, although not all stages always occur and some may overlap.
The initial stage is the bullous stage marked by a linear distribution of vesicles with underlying erythema occurring within the first 4 months of life. These blistering lesions may be mistaken for burns. This pattern is present for several years before fading in childhood or adolescence, and can be mistaken for bruising.
The final stage, the atretic stage, is marked by hypopigmentation and overlying alopecia and occurs in adulthood [Ciarallo and Paller, ]. All cutaneous lesions occur along lines of Blaschko, distinct cell migration pathways during embryogenesis, which are unlike the typical bruise or burn patterns seen in child physical abuse. In addition to cutaneous manifestations, IP can also be associated with neurological findings including seizure and cerebral edema which may raise suspicion for abusive head trauma.
Ciarallo and Paller report two cases of IP in infants who were initially suspected as victims of child abuse. The first child presented with seizures and was found to have diffuse cerebral infarcts on head CT. This child further was diagnosed by a pediatric ophthalmologist with retinal hemorrhages, although a further description of these hemorrhages was not provided. A thorough history revealed a family history of multiple miscarriages, retinal detachment, and cutaneous findings.
Both children had characteristic skin findings of IP. Although pediatric dermatological consultation was utilized in both cases, the importance of primary clinician awareness and physical examination cannot be overemphasized [Ciarallo and Paller, ]. Phytophotodermatitis is another dermatological condition that can be mistaken for child abuse. The severity of some of these lesions can mimic an abusive burn particularly with an absence of a relevant history.
Inducing substances in children include lime and lemon juice, fig leaf sap, and hogweed, also known as cow parsnip [Pfurtscheller and Trop, ]. The phototoxic reaction can be exacerbated by prolonged exposure to sunlight and swimming or bathing after contact, all of which frequently occur in concert in active children during the summer months. Urticaria pigmentosa is yet another cutaneous mimic of child physical abuse. It is the most common manifestation of mastocytosis in children.
Darrier's sign is present which is defined as the development of localized urticaria and erythema following scratching or stroking of the skin lesions [Ramphul et al. It is more common in postmenopausal females, but can be seen in prepubertal girls with an estimated prevalence of 1 in —1, Familial cases have been described, although no clear inheritance pattern has been identified.
Children with the condition can present with vulvar itching, pain, bleeding, or painful voiding or defecation. This atrophic skin is fragile and can be easily excoriated which can lead to superficial abrasions and punctate hemorrhages. It is these lesions that can mimic the trauma of sexual assault, and it is not uncommon for patients with this condition to be referred for a sexual abuse examination.
The presence of lichen sclerosus does not preclude the coexistence of sexual abuse, however, so further history should be gathered to help exclude the possibility. It is apparent that many physical abuse mimics have associated cutaneous components as part of the underlying condition. With additional provider awareness and education, a portion of unsubstantiated child abuse reports may be attributed to medical conditions using history and physical examination alone.
Before reviewing the known medical conditions that predispose to bruising, it is relevant to identify pertinent contrasting features of accidental versus abusive cutaneous bruising in children. The more common locations of accidental falls include the forehead, tip of the nose, chin, palms, posterior elbows, knees, and anterior shins. Injuries that occur away from bony prominences such as on the face eyes, ears, mouth , external forearms, posterior hands, back, posterolateral thighs, buttocks, and soles of feet are more common in abusive trauma [Tsokos, ] see Fig.
Other reports add neck, upper arms, genitalia, and anterior thigh to that list [Anderst and Carpenter, ]. Similarly, Pierce et al. Many of these locations are small or concealed underneath clothing or hair such that they can be readily missed in the absence of any suspicion of abuse. An additional criterion worthy of mention is developmental stage, which may be appropriately subcategorized under localization.
Infants and children who do no yet cruise are far less susceptible to the typically sustained accidental bruising patterns seen in children who crawl, cruise, and walk. Several studies document the correlation between increasing age and gross motor developmental milestone acquisition with increased prevalence of bruising [Maguire et al. As motor development and mobility advances from crawling to cruising to walking, the prevalence of bruising over the anterior shins, knees, and forehead also increases [Sugar et al.
Other features common to abusive injuries are patterned injuries, repeated injuries, and clustered injuries. Patterned injuries are those that leave distinct markings suggesting the likely object used to injure the child. Bite marks or imprints of fingers secondary to slapping are also forms of patterned bruising. Repeated injuries refer to injuries of various ages.
It is with caution that a clinician use color, tenderness, or edema to infer the age of a bruise, as there is no consensus or evidence suggesting methodological approach or precision in dating bruises [Maguire et al. Lastly, cluster injuries defined as three or more injuries in the same body location, are also indications for high suspicion of abuse [Tsokos, ] see Fig.
It is important to point out that certain cultural practices may result in skin findings that mimic inflicted trauma. Cupping is a practice sometimes seen by people of Russian, Asian, and Mexican cultures, whereby a heated cup is applied to the skin creating negative pressure; this can result in patterned bruising suspicious for abuse.
Similarly, coining is a practice sometimes seen in Southeast Asian cultures where a coin or spoon is rubbed against the skin until petechiae or purpura develop. The resultant symmetrical pattern of bruises that result can be mistaken for child physical abuse [Lilly and Kundu, ]. Careful history taking and cultural awareness can help prevent misdiagnosis of these children.
Heritable hematological disorders are frequently causes of cutaneous bruising, and such bruising can occur on any region of the body, including areas suspicious for abuse [Anderst and Carpenter, ]. We discuss three groups: platelet disorders, factor deficiencies, and fibrinogen defects. For simplification, we separate these into primary platelets and secondary hemostasis coagulation factors and fibrinogen deficits.
Heritable hematological disorders are frequently causes of cutaneous bruising, and such bruising can occur on any region of the body, including areas suspicious for abuse. Platelets further activate the coagulation cascade, leading to downstream secondary hemostasis.
Congenital platelet abnormalities involve platelet deficiency, poor platelet functionality, or a combination of the two. Autosomal recessive platelet function abnormalities such as Glanzmann thrombasthenia GT and Bernard—Soulier syndrome BSS are some of the most rare bleeding disorders presenting with very severe symptoms. Extensive bruising is common to these disorders, and a child with other distinct clinical features concerning for a genetic syndrome should be tested appropriately.
Factor deficiencies are the more common subset of bleeding disorders and consist of a large group of disorders. Some studies report up to 0. Von Willebrand factor binds other proteins and is essential to platelet adherence at the site of blood vessel wall injury.
Tor Shwayder (Author of Child Abuse and Its Mimics in Skin and Bone)
It is essential to note that all three types are clinically heterogeneous and result in variable severity of bleeding from epistaxis to hemarthroses, but cutaneous bruising is common and spontaneous intracranial hemorrhage is rare in all forms [Anderst and Carpenter, ]. It is thus important to elicit any relevant family history of easy bruising, menorrhagia, or any other prolonged bleeding. The rarity of the remaining factor deficiencies does not preclude consideration, especially when screening tests are inconclusive.
Almost all factor deficiencies can cause mucocutaneous bleeding along with other sequelae, and onset of symptoms can occur at any age [Carpenter et al. Any abnormal results in these initial screening studies, should warrant further investigation in the form of specific factor assays and referral to a pediatric hematologist. Fibrinogen defects are congenital bleeding disorders that result in low levels, complete absence, or abnormal function of the fibrinogen protein.
The most common form, afibrinogenemia, has a prevalence of 1 in , This group of disorders presents with a range of symptoms from mild mucocutaneous bleeding to severe intracranial hemorrhage. Screening PT and aPTT can effectively detect severe forms, but milder forms may require more sensitive testing such as thrombin time, reptilase time, or measurement of fibrinogen antigen.
Of note, most neonates with afibrinogenemia present initially with prolonged bleeding of the umbilical cord [Carpenter et al. Due to genetic mutations in collagen producing genes, EDS is a clinically heterogeneous connective tissue disorder characterized by joint hypermobility, frequent joint dislocations and subluxations, increased skin elasticity, and poor blood vessel integrity. Because of the increased skin fragility, scarring can occur, and it can be significant.
It is inherited in an autosomal dominant, autosomal recessive, or via a sporadic mutation, and prevalence is approximately 1 in 5, making it one of the more common child abuse mimics. Although all six major types of EDS cause cutaneous manifestations, Type IV, known as vascular type, is most notable for a propensity towards excessive bruising as well as potentially fatal organ rupture.
When considering physical abuse in a child with numerous ecchymoses, scarring, an exam positive for slim build, translucent skin with visible veins, characteristic facial features, and rupture of internal organs such as uterus or intestines should raise suspicion for Type IV EDS [Pepin et al. Likewise, OI is another distinct heritable collagen disorder marked by variable clinical presentation, including bone fragility and cutaneous bruising.
Autosomal dominance is the major pattern of inheritance, although autosomal recessive forms exist as well. Capillary fragility and platelet dysfunction are thought to be the causes for easy bruising. Blue sclera, short stature, and poor bone mineralization are major clinical findings and with the addition of a positive family history, consideration for OI should be given.
Confirmatory diagnosis is made by DNA testing or collagen analysis. The need for evaluation of bleeding diatheses can be based upon three criteria: the explanation for the bruising in question, the nature and location of said bruising, and the motor development of the child [Anderst and Carpenter, ].
During any child abuse evaluation, it is prudent to elicit a thorough medical and family history, perform a complete physical examination, and obtain basic testing in light of the varying degrees of presentation in inheritable syndromes. These particular studies test for disorders with a prevalence of greater than 1 in ,, including most factor deficiencies, VWD, and ITP and excluding Factor XIII deficiency, the aforementioned platelet disorders, fibrinogen defects, and fibrinolytic defects.
Abusive head trauma AHT can be a devastating result of child physical abuse. Many times the precise abusive mechanism cannot be immediately determinable in practice. The estimated annual incidence of abusive head trauma in the first 2 years of life is 16—33 per , infants.
There is significant evidence, however that this represents an underestimation [Christian et al. The severity of the inflicted trauma will determine the clinical presentation. The most common findings in AHT are subdural hemorrhages and retinal hemorrhages. However, it is obligatory that clinicians are cognizant of the extensive list of medical conditions with features of intracranial hemorrhage and retinal hemorrhages that can mirror many features of AHT.
It is important that a multidisciplinary approach be undertaken in an effort to determine whether abuse has occurred. Some genetic conditions that can present similarly to AHT will be briefly discussed here. This enzyme deficiency can ultimately lead to basal ganglia neuronal loss and severe dystonia.