Biopsy‐Proven Spontaneous Regression of a Rhabdomyomatous Mesenchymal Hamartoma

Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare, benign, congenital tumor of the dermis and subcutaneous tissue comprised of skeletal muscle and adipose and adnexal elements. Although the majority of cases are an incidental finding in otherwise healthy patients, some have been reported in association with other anomalies. We present a full‐term boy evaluated on day 2 of life for two lesions located on the midline of the lower back and right buttock that each appeared clinically as an atrophic, pink plaque. Ultrasound of the midline lesion revealed an underlying lipomyelomeningocele with a tethered cord in the spinal canal. Histopathology of the right buttock cutaneous lesion was consistent with a diagnosis of RMH. Surgical excision was performed on the midline intradural lipoma and the lesion on the buttock was monitored clinically. Repeat biopsy of this site at 1 year of age revealed complete spontaneous regression. This case highlights three interesting features: the association with an occult spinal dysraphism lipomyelomeningocele and tethered cord, the clinical presentation of an atrophic plaque as opposed to the more commonly reported raised lesions, and the phenomenon of spontaneous regression of the lesion. Most importantly, this final feature of regression in our patient suggests that, in the absence of symptoms, clinical observation of RMH lesions is warranted for spontaneous regression for 1 to 2 years provided that no functional deficit is noted and that the cutaneous or deeper lesions are not causing a medical problem.     

Rhabdomyomatous mesenchymal hamartoma: an unusual dermal entity with a report of two cases and a review of the literature

BACKGROUND: Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare congenital lesion of the dermis and soft tissues consisting of a disordered and varied collection of mature adipose tissue, skeletal muscle, adnexal elements and nerve bundles. This entity exists under various names including striated muscle hamartoma, congenital midline hamartoma, and hamartoma of cutaneous adnexa and mesenchyme. Several published cases report the occurrence of RMH within the setting of other uncommon congenital abnormalities. METHODS: We report the clinical and pathologic features of two cases of rhabdomyomatous mesenchymal hamartoma. Patient 1 is a 71-year-old man who presented for removal of a nodule located on his temple that had been traumatized during a recent haircut. Patient 2 is a 4-month-old infant with amnion rupture sequence and rare craniofacial abnormalities including facial clefts, microphthalmia, bilateral colobomas, and a mobile fingerlike projection above the left medial canthus. RESULTS: Histological examination in both cases showed a deep dermal and subcutaneous fat collection of disorganized skeletal muscle fibers, adipose and neural tissue, and adnexal structures. Characteristically, the skeletal muscle approximated folliculosebaceous structures in a haphazard manner. CONCLUSIONS: RMH is a rare benign condition of the deep dermis and subcutaneous fat with only 22 cases existing in the English literature. To our knowledge, this is the first report of an elderly man presenting with RMH, presumptively present since birth. There was no evidence of cellular or malignant degeneration. While the etiology of RMH is unknown, possible explanations include aberrancy in the embryonic migration of mesodermally derived tissues or a genetic defect predisposing to the formation of hamartomas.     

Rhabdomyomatous mesenchymal hamartoma with lentiginous melanocytic hyperplasia: an inductive phenomenon or component of the hamartoma?

Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare cutaneous hamartoma characterized by abundant bundles of mature skeletal muscle fibers admixed with other mesenchymal elements. We report a case of RMH in a 7-month-old girl with associated lentiginous melanocytic hyperplasia. The melanocytic hyperplasia was not apparent clinically and was only evident on histological examination. Unlike a smooth muscle hamartoma, melanocytic abnormalities have never been described in the context of RMH. Though the exact significance of this observation is not clear, we speculate that the melanocytic hyperplasia could be related to an inductive phenomenon or constitute a part of the overall hamartomatous process. Careful attention to epidermal changes in future cases of RMH may help in understanding the significance of this association and refine our knowledge of the pathogenesis of RMH.     

A Prospective Study of Cutaneous Manifestations of Spinal Dysraphism from India

Abstract: Recognition of cutaneous markers of spinal dysraphism is important to prevent the morbidity associated with underlying spinal anomalies. To investigate the frequency and type of cutaneous stigmata in different forms of spinal dysraphism and to assess the role of ultrasonography and/or magnetic resonance imaging in diagnosing spinal dysraphism at two pediatric dermatology tertiary care centers. Over a 4‐year period, all pediatric patients presenting to the dermatology clinic with dorsal midline cutaneous stigmata were evaluated clinically and with imaging studies (radiography, ultrasonographic examination and magnetic resonance imaging/Doppler). Surgical interventions were planned in conjunction with neurosurgery and orthopedic specialists. On examination, 245 (4.2%) had 285 cutaneous stigmata. Of the 180 patients evaluated with radiography, ultrasonographic examination and magnetic resonance imaging, 50 patients (28%) had spinal dysraphism (with 64 cutaneous stigmata). The most common stigmata associated with occult spinal dysraphism were lipoma (10) and dimples (12) and in open spinal dysraphism lipomeningomyelocoele (10) and meningomyelocoele (10). Statistically, lipomeningomyelocoele/myelomeningocoele, atypical dimples and port‐wine stains were most associated with spinal dysraphism (p < 0.001). In 80 children less than 6 months of age, radiography with ultrasonographic examination revealed an SD in 16, while magnetic resonance imaging was diagnostic in four cases. Ultrasonographic examination performed fairly well in children less than 6 months and in cases of flat cutaneous stigmata it missed only 5% of cases, but in cases with bulky overlying masses (lipoma, hemangioma) it missed 15% of cases.     

Skin markers of occult spinal dysraphism in children: a review of 54 cases

OBJECTIVES: To verify the diagnostic value of lumbosacral midline cutaneous lesions in asymptomatic children to detect occult spinal dysraphism (OSD) and to propose a practical approach for clinical investigations with respect to the type of cutaneous lesions observed. DESIGN: Retrospective study of 54 children referred to the Department of Pediatric Dermatology between 1990 and 1999 for congenital midline lumbosacral cutaneous lesions. SETTING: The private or institutional practices of participating dermatologists and pediatricians. MAIN OUTCOME MEASURES: Evaluation of the diagnostic value of midline cutaneous lesions for the detec-tion of OSD. Association of skin examination findings with spinal anomalies detected by magnetic resonance imaging or ultrasound. RESULTS: Occult spinal dysraphism was detected in 3 of 36 patients with an isolated congenital midline lesion and 11 of 18 patients with a combination of 2 or more different skin lesions. CONCLUSIONS: A combination of 2 or more congenital midline skin lesions is the strongest marker of OSD. Careful dermatologic examination is needed to detect suggestive markers and request a spinal magnetic resonance image, which is the most sensitive radiologic approach to detect an OSD.     

Sacral hemangioma with sinus tract in an infant

Congenital midline cutaneous lesions should always alert the clinician to the possibility of spinal dysraphism. These lesions can take many different forms. The physician should be cognizant of such lesions in order to avoid potential neurologic complications. We present a patient with a midline sacral hemangioma associated with a congenital enteric sinus cyst, a previously unreported association.     

A Tale of Two Tails: Not Just Skin Deep

The dorsal cutaneous appendage or the so called human tail is a rare congenital anomaly protruding from the lumbo-sacro-coccygeal area. These caudal appendages are divided into true-tails and pseudo-tails. We report here two cases of congenital pseudo-tail with underlying spina bifida and lipo-meningocele. In this article we seek to emphasize that, as the skin and nervous systems are intimately linked by their similar ectodermal origin, a dorsal appendage may be regarded as a cutaneous marker of the underlying spinal dysraphism.     

Cutaneous signs of spinal dysraphism. Report of a patient with a tail-like lipoma and review of 200 cases in the literature.

The term "spinal dysraphism" was coined in 1940 by Dr Lichtenstein to designate incomplete fusion or malformations of structures in the dorsal midline of the back, particularly congenital abnormalities of the vertebral column and spinal cord. Raphes develop on the face and head, brancheal arches, sternum, and spinal column. When dysraphism occurs in these sites, failure of closure of fontanelles, cleft lip and palate, brancheal cysts, and abnormalities of the ribs and spine result. A review of 200 cases of occult spinal dysraphism showed the condition to be more common in female patient and to be associated with cutaneous signs in more than 50% of instances. The age at which neurologic symptoms appeared in recorded cases is from birth to 76 years, the average being three years. A case of spinal dysraphism with a tail-like cutaneous structure is presented. The cutaneous manifestations accompanying spinal dysraphism that may lead to early recognition of this syndrome and early institution of treatment are discussed.     

Neural Tube Dysraphism: Review of Cutaneous Markers and Imaging

Neural tube dysraphisms are congenital anomalies resulting from impaired formation of structures along the craniospinal axis during central nervous system development. When these malformations are large or lack a skin covering, they are easily recognized, whereas smaller or skin‐covered malformations may not be readily apparent. Due to the intimate embryologic origin of the skin and nervous system, these occult malformations are often heralded by associated cutaneous abnormalities. In this article, the common clinical presentations and cutaneous markers of craniospinal dysraphism are reviewed, along with the recommended imaging modalities.     

Sacral nevus flammeus simplex: the role of imaging

Neonates with midline lumbar, thoracic, or occipital cutaneous lesions should be suspected of having spinal dysraphism and should undergo an imaging study. The aim of the present study was to evaluate whether sacral nevus flammeus simplex (SNFS) in neonates is associated with spinal dysraphism. During a period of 6 months, we prospectively examined all neonates in our center for the presence of SNFS. Those affected were evaluated for associated anomalies by physical and neurologic examination and ultrasound imaging of the lumbosacral area. Twenty-eight of 3623 neonates (0.77%) were diagnosed as having SNFS. In 64% of the SNFS patients, nevus flammeus simplex (NFS) was noted as well. Physical and neurologic examinations were unremarkable. Ultrasound imaging of the lumbosacral area was performed in 25 patients (89%) and revealed diastematomyelia in one. The results show that SNFS may constitute the only cutaneous sign of spinal dysraphism. In conclusion, we recommend that neonates with SNFS be investigated for occult spinal dysraphism.     

Clinical and histologic features of striated muscle hamartoma: Possible relationship to Delleman's syndrome

We describe 5 new cases of striated muscle hamartoma (SMH) and review the 7 cases previously described in the literature. Eleven of the 12 patients had single lesions centrally located on the chin (4), near the ala of the nose (3), on the upper chest (3), and on the upper lip (1). Histologically all of the lesions were characterized by a central core containing bundles and individual fibers of skeletal muscle as well as other mesenchymal elements. The muscle fibers penetrated the dermis among numerous folliculo-sebaceous structures. Of the 12 cases of SMH, 3 had other associated congenital anomalies including a cleft lip in 1 patient and a thyroglossal duel sinus in another with single lesions, and preauricular sinuses, low-set ears and bilateral sclerocorneas in the case of multiple SMH. The relationship of SMH with oculocerebrocutaneous syndrome is discussed, and we conclude that at least some of the skin appendages associated with that syndrome are SMH.     

Reticular infantile hemangioma of the limb can be associated with ventral-caudal anomalies, refractory ulceration, and cardiac overload

Abstract:  We describe six patients with an uncommon variant of infantile hemangioma that we have termed reticular , occurring in the extremity, which were associated with intractable ulceration, anogenito-urinary-sacral anomalies, and sometimes cardiac overload. The extreme end of the spectrum is exemplified by a male neonate who presented with a stained, enlarged, pulsatile lower extremity, and cardiac failure. He also had hepatic hemangiomas and ambiguous genitalia. Progressive soft tissue necrosis and bony destruction necessitated amputation. The histopathologic features differed from those of typical infantile hemangioma: infiltrative (not lobular) and involving fascia, muscle, and bone.
The mid-spectrum is illustrated by five females with reticular infantile hemangioma of the lower limb, buttock, and perineum. Four of these infants had a ventral-caudal anomaly, including omphalocele, recto-vaginal fistula, solitary/duplex kidney, imperforate anus, and tethered cord; one infant also had hepatic hemangiomas. Deep ulcerations healed following corticosteroid therapy; one patient required skin graft for closure of a thigh wound. The minor end of the spectrum is exemplified a patchy lesion in the distal limb.
The reticular variant of infantile hemangioma can be confused with other vascular anomalies in the limb, such as capillary malformation, cutis marmorata telangiectasia congenita, diffuse arteriovenous malformation (Parkes Weber syndrome) and capillary-lymphatico-venous malformation (Klippel–Trenaunay syndrome). The macular network-like appearance of the tumor and coexisting ventral-caudal structural anomalies is analogous to the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities association in the craniofacial region.     

Cervical Occult Spinal Dysraphism: MRI Findings and the Value of a Vascular Birthmark

Abstract: Spinal dysraphism is easily recognized in the overt form as a meningocele or myetomeningocele. The closed form or occult spinal dysraphism (OSD) can be overlooked. It occurs predominantly at the lumbosacral level, but OSD at the cervical level, although very rare, also occurs. The value of magnetic resonance imaging investigations in preparation for surgical treatment is emphasized. We discuss the value of various midline posterior skin anomalies as Indicators of an underlying developmental defect in the neural axis. Hallmarks for OSD in the inferior third of the back are well known. They can also occur at the cervical level. Among these warning cutaneous midline changes, a vascular stain alone is rarely a clue for OSD whatever the spinal level involved, and specifically In the nuchal area.     

Occult dysraphism presenting with acro‐osteolysis

The skin and the nervous system share common embryologic origins. Cutaneous stigmata may be early clues to underlying occult spinal dysraphism. The delayed manifestations of spinal dysraphism may also involve the skin. We report a case of a 4‐year‐old child in whom acro‐osteolysis and cutaneous trophic changes on the right foot were the presenting features of occult dysraphism.     

Perianal Striated Muscle Hamartoma Associated with Hemangioma

Abstract: Striated muscle hamartoma is a rare entity which was described only recently. It is a congenital malformation characterized by the presence of striated, mature muscle fibers in the reticular dermis and hypodermis. We describe a striated muscle hamartoma of the perianal region in a female infant associated with an hemangioma in the same area that regressed completely. Including the present patient, only 14 cases of striated muscle hamartomas have been reported, but this association with an hemangioma is unique. The lesion was polypoid and histopathologic examination showed numerous striated muscle fibers located within the dermis.     

Becker's nevus syndrome with bilateral skin involvement

Becker’s nevus syndrome is a rare disorder characterized by Becker's nevus associated with developmental anomalies, such as hypoplasia of the ipsilateral breast or other cutaneous, muscular, or skeletal defects. We present a rare case of Becker's nevus syndrome with bilateral skin involvement but the associated anomalies, hypoplasia of the whole right upper limb and ipsilateral breast, remained localized to the more severe body side only.     

Hypopituitarism in PHACES Association

The association consisting of posterior fossal malformations, cervicofacial, hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting, or supraumbilical raphe, refers to the occurrence of congenital structural and vascular anomalies in the presence of a facial hemangioma. We report a patient with this association, growth retardation, and developmental delay who was found to have a partially empty sella turcica, central hypothyroidism, and growth hormone deficiency. Endocrinologic evaluation should be considered in any infant with this association.     

Intradermal Dermoid Cyst Associated with Occult Spinal Dysraphism

A 2-year-old boy with congenital lumbosacral skin lesions is described. He presented with associated occult spina bifida and a sagittal cleft of the vertebral body deep in the skin lesions. The skin lesions presented as a combination of a lipoma, telangiectasia, mild hypertrichosis, and a dermoid cyst. Magnetic resonance imaging (MRI) revealed that the lipoma extended to the spina bifida region, but that it did not connect to the dura. MRI also demonstrated no other spinal lesions requiring surgical treatment. The intradermal location of the dermoid cyst observed in our patient was unusual. We discuss the location of dermoid cysts in the lumbosacral region associated with spinal dysraphism.     

Paucisymptomatic Dermoid Cyst with Fatal Outcome

Dermoid cysts of the central nervous system can cause devastating complications because of the mass effect of meningitis due to sinus tract. We report the case of a 5‐month‐old girl who presented with a crusted lesion of the occipital region of the scalp. Clinical examination noted skin abnormalities suggestive of occult dysraphism. Magnetic resonance imaging (MRI) was recommended, however, 40 days after this evaluation, and before the MRI could be performed, the girl presented with neurologic complications. Unfortunately, the diagnosis of dermoid cyst was made after the onset of severe complications that led to her death. The findings in this case emphasize the importance of more prompt MRI evaluation, particularly in cases where cranial or spinal dysraphism is suspected to have any connection to the skin as a pit or tract. Should we perform an urgent MRI for any cutaneous sign of dysraphism to avoid a dramatic evolution?     

PHACE without Face? Infantile Hemangiomas of the Upper Body Region with Minimal or Absent Facial Hemangiomas and Associated Structural Malformations

Infantile hemangiomas can be associated with congenital anomalies such as PHACE syndrome with facial hemangiomas and genitourinary and spinal anomalies in the setting of lower body hemangiomas. We describe five infants in whom segmental hemangiomas involving the upper torso and extremities with absent or small facial hemangiomas were associated with structural anomalies similar to those reported with PHACE syndrome, including three with structural arterial anomalies of the subclavian arteries, three with aortic arch anomalies (right sided or narrowed arch), two with congenital heart disease (atrial septal defect and ventricular septal defect; tetralogy of Fallot), one with a retinal scar, and one with a sternal defect (scar). Two of five had small facial hemangiomas of the lower lip, but none had large segmental hemangiomas of the face. Three of five would have met diagnostic criteria for PHACE but lacked a facial hemangioma of 5 cm in diameter or greater. Patients with segmental arm and thorax hemangiomas may have associated structural abnormalities with overlapping features of PHACE, suggesting that a similar syndrome can occur in this clinical setting.