Incidental finding of cutaneous meningeal heterotopia in aplasia cutis congenita

Aplasia cutis congenita and cutaneous meningeal heterotopia are both rare congenital conditions that most commonly occur on the scalp and may appear clinically and histologically similar. A subtype of aplasia cutis congenita, membranous aplasia cutis congenita, and cutaneous meningeal heterotopia are both proposed to result from neural tube closure errors. However, neither non‐membranous nor membranous aplasia cutis congenita are known to occur together with cutaneous meningeal heterotopia in the same lesion. We report the incidental finding of cutaneous meningeal heterotopia within a lesion of aplasia cutis congenita.     

CUTIS MARMORATA TELANGIECTATICA CONGENITA WITH SKIN ULCERATIONS IN A NEW BORN

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder with persistent cutis marmorata, telengiectasia, and phlebectesia, which may be associated with cutaneaus atrophy and ulceration of the involved skin. We herewith report a full-term newborn female baby with CMTC at birth with ulceration over the extensor aspects of both the knee joints and right elbow joint. CMTC is a benign vascular anomaly representing dilatation of capillaries and veins of dermis and is apparent at birth. The baby had a reticulated bluish purple skin changes all over the body including the face and limb. Although it resembled physiological cutis marmorata, it was strikingly pronounced and definitely was unvarying and permanent. A variety of vascular malformation has been described along with this disorder. Etiology is not very clear and may be multifactorial, teratogens and genes are also been suggested. Prognoses in uncomplicated cases are good.     

Aplasia cutis congenita in a defined population from northwest Spain

Aplasia cutis congenita is a rare condition characterized by congenital absence of the epidermis, dermis, and subcutaneous tissue. It may occur as an isolated defect or associated with other anomalies. This study sought to determine the frequency of this condition over a 10-year-period at the single hospital for a well-defined population. A literature review of potential mechanisms implicated in the development of this condition was also conducted. A retrospective review of all case records of patients diagnosed with aplasia cutis congenita between January 1994 and December 2003 at Hospital Xeral-Calde, in the Lugo region of northwest Spain was undertaken. During the period of study four patients were diagnosed with this condition. Three of them were of the gypsy race. These three had aplasia cutis congenita associated with epidermolysis bullosa and deformed nails. The incidence of aplasia cutis congenita in our region was 2.8 cases per 10,000 newborns. It was found that the incidence of this disorder in northwest Spain was similar to that described in the literature. Careful study due to the frequent association of aplasia cutis congenita with other congenital anomalies and a complete obstetric and family history of all affected individuals are required to identify possible specific teratogens, intrauterine infections, chromosomal abnormalities, or history of this condition among relatives.     

Aplasia cutis congenita with precancerous transformation - the first case. Why do these scars never develop invasive tumors?

The term aplasia cutis congenita characterizes a heterogeneous group of diseases which have in common a focal absence of the skin. The defect may be limited to the epidermis but often involves the full thickness of the skin including the underlying bone. At birth the lesions present as erosive patches and they heal rather rapidly with a residual scar. Although more than 200 publications on aplasia cutis congenita have appeared in the medical literature between 1966 and 1999, surprisingly no case of malignant degeneration has been described. We observed a 58-year-old male patient with aplasia cutis congenita who developed crusted changes within the scar over the past 10 years. Repeated biopsies over the years have always documented a precancerous lesion without solar elastosis. Invasion has never been observed in this patient. We hypothesize that for invasive malignancies dermal-epidermal interactions are necessary. Such a cell to cell communication seems to be impossible in patients with aplasia cutis congenita, as the dermal-epidermal unit is not developed. Aplasia cutis congenita might serve as an interesting model for further investigations on the importance of epidermal-dermal interactions.     

Giant aplasia cutis congenita without associated anomalies

Aplasia cutis congenita is a congenital condition in which skin, bone, and dura can be absent. The condition can present in isolation or with associated conditions such as limb anomalies or embryologic malformations. The majority of cases affect the scalp and are limited to the dermis and epidermis. Vertex aplasia cutis typically range in size from 0.5 to 3 cm. The rare larger scalp defects are prone to complications of hemorrhage and infection, and subsequently patients are at risk for death. For these reasons, surgical intervention for large defects may be required. We report the case of a 12-month-old Haitian boy who presented with aplasia cutis congenita of the scalp involving 10 cm of skin and 9 cm of underlying bone. There were no other associated anomalies.     

Extensive Symmetric Truncal Aplasia Cutis Congenita without Fetus Papyraceus or Macroscopic Evidence of Placental Abnormalities

Abstract: Aplasia cutis congenita is a rare disorder characterized by localized absence of skin at birth. Type V in Frieden's classification, which is associated with fetus papyraceous or placental infarcts, occurs as a large cutaneous defect on the trunk and extremities. The patient we report had a lesion affecting the trunk and extremities symmetrically, with no family history of the disorder or chromosomal abnormalities. In our opinion, despite the absence of fetus papyraceous or placental infarct, this patient's condition can be classified as type V.     

Aplasia cutis congenita: a clinical review and proposal for classification

Aplasia cutis congenita is a condition in which localized or widespread areas of skin are absent at birth. Several distinct clinical subtypes occur, characterized by the location and pattern of skin absence, the presence of associated malformations, and the mode of inheritance. The disorder is seen most frequently on the scalp, often as a solitary lesion without other anomalies. Scalp lesions can be seen in association with limb reduction defects and in association with epidermal and organoid nevi. Lesions may overlie overt or occult embryologic malformations. A form of aplasia cutis congenita occurs in association with placental infarcts or the in utero death of a twin fetus. The condition may be associated with epidermolysis bullosa, specific teratogens or intrauterine infections, or it may occur in the presence of chromosomal abnormalities, ectodermal dysplasias, or other syndromes of malformation. A classification for aplasia cutis congenita is proposed.     

Aplasia cutánea congénita familiar

—Aplasia cutis congenita is a heterogeneous group of disorders in which localized or widespread areas of the skin are absent at birth. It was first described by Cordon in 1767. Most cases are sporadic, although familial cases have been reported as either an autosomal dominant or a recessive trait, with variable expression. Several distinct subtypes of aplasia cutis congenita occurs characterized by the location of the defect, the presence of associated malformations and the mode of inheritance.We present a case localized in the scalp, without any associated anomaly, and with three other membersof the family afected, corresponding to an autosomal dominant mode of inheritance.     

Fibromatosis of breast mimicking sarcoidosis

Primary mammary fibromatosis is a rare skin condition which can arise after trauma or previous surgery. The exact etiology is unknown. Very few cases have been reported in literature and the main emphasis is to differentiate this condition from breast carcinoma. We report here an unusual case of a 60 year old female who presented with skin lesion which clinically looked sarcoid with history suggestive of sarcoidosis, but on histopathology fibromatosis of breast was revealed. Complete work up ruled out any carcinomatous changes. Surgical excision of the lesion was done with no recurrence seen in one year follow up period.     

A Case of Aplasia Cutis Congenita,Type VII

Aplasia cutis congenita (ACC) is a rare congenital defect in which localized or widespread areas of the skin are absent at birth. In the majority of cases, it is limited to the scalp especially on the vertex although other areas of the body may also be involved. Other congenital malformations can be associated with ACC. We present herein the case of a new born male with unilateral absence of skin on the extensor surface of the right lower leg. There was no associated malformation or skin disease such as blistering or nail abnormailty. According to the classification outlined by Frieden, the condition was diagnosed as type VII aplasia cutis congenita. The treatment of this large ulcer was conservative, wet dressing and prophylactic topical antibiotics. On follow up after 2 years showed that the patient was nearly cured of the ulcer and had only minimal scar formation.     

Spontaneous Acroangiodermatitis

Acroangiodermatitis is a rare self-limited angioproliferative lesion which can be associated with congenital vascular malformations or acquired venous insufficiency. Despite of its benign character, differential diagnosis of this lesion is very important because it closely resembles Kaposi sarcoma. Here we present a 26-year-old male patient with unilateral, purplish-red colored papules on his right ankle which diagnosed as acroangiodermatitis and discuss histopathological features, differential diagnosis and treatment of this unusual condition.     

A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited

De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities. We present here an account of 5-year follow-up since the birth of an Indian boy with DBS, who had a few rare and unusual manifestations. In addition, our case probably represents the first reported case of DBS from India.     

Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement

Specific clinical features of aplasia cutis congenita may indicate the presence of underlying cranial or cerebrovascular defects, allowing for early recognition and intervention. Most information about aplasia cutis congenita exists as individual case reports, with few large‐scale studies. We conducted a 7‐year retrospective chart review of 90 cases of aplasia cutis congenita and identified clinical characteristics including morphology, number of lesions, anatomic location, presence of hair collar sign, associated cutaneous features, histology, and imaging results. The anatomic location of the lesion (vertex, midline) (P = .01), presence of hair collar sign (P < .001), vascular stains (P < .001), and nodules (P = .007) were found to be strong clinical indicators of skull or cerebrovascular involvement.     

Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia

We report two cases of aplasia cutis congenita associated with hair collar signs and hemangioma simplex in their parietal regions. A hair collar sign and a hemangioma are known to suggest the possibility of underlying neural tube defects. However, no obvious bone defects or heterotopic neural tissue were observed in the imaging and histopathological examinations. Nevertheless, some pathological observations similar in both cases suggested abnormalities in the process of ectodermal fusion. A flat epidermis and a lack of appendages were recognized. Both cases also exhibited the presence of melanocytes in a portion of the superficial dermal layer. An increase in the number of macrophages was observed in the dermal area with neither elastic fibers nor normal collagen fibers. The peripheral hair follicles grew horizontally.     

Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams–Oliver syndrome

Summary We describe an 18-month-old boy with multifocal scalp defects over the posterior parietal region combined with an underlying defect of the skull, left lower limb distal hemimelia and generalized cutis marmorata telangiectatica, consistent with a diagnosis of Adams–Oliver syndrome (aplasia cutis congenita with distal transverse limb defects).     

Multifocal tuberculosis verrucosa cutis

Tuberculosis has been a well-known affliction of human kind, since antiquity. Cutaneous tuberculosis constitutes only a small proportion of extra pulmonary tuberculosis and multifocal involvement of cutaneous tuberculosis is an even rarer manifestation. We report one such case of multifocal tuberculosis verrucosa cutis in a 17-year old male patient in the absence of any primary tuberculous focus.     

Profiling and Hormonal Therapy for Acne in Women

Acne vulgaris is the most common condition treated by physicians worldwide. Though most acne patients remit spontaneously, for the ones that do not or are unresponsive to conventional therapy or have obvious cutaneous signs of hyperandrogenism, hormonal therapy is the next option in the therapeutic ladder. It is not strictly indicated for only those patients who have cutaneous or biochemical evidence of hyperandrogenism, but can be used even without any evidence of hyperandrogenism, for therapy-resistant acne. It can be prescribed as monotherapy, but when used in combination with other conventional therapies, it may prove to be more beneficial. Hormonal evaluation is a prerequisite for hormonal therapy, to identify the cause behind hyperandrogenism, which may be ovarian or adrenal. This article reviews guidelines for patient selection and the various available hormonal therapeutic options, their side-effect profile, indications and contraindications, and various other practical aspects, to encourage dermatologists to become comfortable prescribing them.     

Multiple neural fibrolipomas with macrodactyly

Neural fibrolipoma is an uncommon tumor-like lesion that involves the upper extremity and usually arises in the median nerve. It is associated with macrodactyly in one-third of the cases. A 3-year-old girl presented with increasing size of fingers of both the hands since birth. Clinical examination revealed macrodactyly of two fingers of the right hand and three fingers of the left. Surgical reduction was performed and microscopy of the biopsy specimen established the diagnosis of neural fibrolipoma. Knowledge of the clinicopathological features is necessary for accurate diagnosis and treatment of this rare entity.     

The Association of Aplasia Cutis Congenita with Therapy of Maternal Thyroid Disease

Aplasia cutis congenita, the localized absence of skin at birth, usually is an isolated scalp defect. We examined an infant with aplasia cutis congenita associated with maternal Grave's disease and the use of methimazole during pregnancy. This association was reported twice before. It has certain implications with respect to therapy of pregnant hyperthyroid women.     

Nephrogenic systemic fibrosis: a brief review

Nephrogenic systemic fibrosis is a fibrosing disorder of the skin that develops in patients with advanced renal failure. It mostly presents with progressive hardening or induration of the skin of the extremities. Systemic involvement is also known to occur in this entity. Exposure to gadolinium contrast for radiological evaluation has been identified as the offending agent. The condition is progressive and can be seriously disabling. Therapeutic options are limited and not rewarding in majority of the cases. Awareness of this entity is important so that proper precautionary measures can be taken at the earliest to ameliorate the condition.